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NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)

Source

ClinVar variation 55628: NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)

Recipes that this example satisfies

Protein Sequence Consequence

Properties

id: clinvar:55628

ClinVar Variation ID, where 55628 is the Variation ID listed within the Identifiers section of ClinVar’s Variant Details.

type: CategoricalVariant

This value is required by the specification for all Categorical Variant objects.

name: NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)

Human-readable label listed within the Identifiers section of ClinVar’s Variant Details.

description: A brief placeholder note.

This field was populated with an example value because ClinVar does not contain a longform description of this variant.

aliases: A subset of HGVS representations

A subset of HGVS representations from ClinVar’s Variant Details, including the MANE Select nucleotide coding (NM_007294.4:c.5558dup) and protein expressions (NP_009225.1:p.Tyr1853Ter and NP_009225.1:p.Y1853*), the full HGVS name with single-letter amino acid abbreviation, and both GRCh38 and GRCh37 hgvs.g variants, as well as the Canonical SPDI representation provided by ClinVar.

extensions: cytogenetic location, clinvar variation type, and hgvs list

The cytogenetic location (17q21.31) and ClinVar variation type (Duplication) are obtained from ClinVar’s Variant Details. The hgvs list extension includes GRCh38 genomic, GRCh37 genomic, MANE Select coding, and protein HGVS representations.

mappings: ClinVar, ClinGen, and dbSNP

Mappings to ClinVar’s page for the variant, ClinGen, and dbSNP are included from the Links section of ClinVar’s Variant Details.

Constraints

Defining Allele Constraint

The allele field is populated with the VRS Allele corresponding to the MANE Select protein representation NP_009225.1:p.Tyr1853Ter, as included within members. The constraint includes a translation_of relation linking the protein allele to its coding DNA representation.

Members

The members field includes three VRS Allele objects generated using the VICC Variation Normalizer:

  • NC_000017.11:g.43045712dup (GRCh38 genomic, on refseq:NC_000017.11)

  • NC_000017.10:g.41197729dup (GRCh37 genomic, on refseq:NC_000017.10)

  • NP_009225.1:p.Tyr1853Ter (protein, on the MANE Select protein product for BRCA1 refseq:NP_009225.1)

The variant normalization service was unable to generate a VRS Allele for the MANE Select coding representation NM_007294.4:c.5558dup.

Full example: JSON

{
  "id": "clinvar:55628",
  "type": "CategoricalVariant",
  "name": "NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)",
  "description": "An example categorical variant that models NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) from ClinVar.",
  "aliases": [
    "NM_007294.4:c.5558dup",
    "NP_009225.1:p.Tyr1853Ter",
    "NP_009225.1:p.Y1853*",
    "NM_007294.4(BRCA1):c.5558dup (p.Y1853*)",
    "NC_000017.11:g.43045712dup",
    "NC_000017.10:g.41197729dup",
    "NC_000017.11:43045711:T:TT"
  ],
  "extensions": [
    {
      "name": "cytogenetic location",
      "value": "17q21.31"
    },
    {
      "name": "clinvar variation type",
      "value": "Duplication"
    },
    {
      "name": "hgvs list",
      "value": [
        {
          "nucleotideExpression": {
            "syntax": "hgvs.g",
            "value": "NC_000017.11:g.43045712dup"
          },
          "nucleotideType": "genomic"
        },
        {
          "nucleotideExpression": {
            "syntax": "hgvs.g",
            "value": "NC_000017.10:g.41197729dup"
          },
          "nucleotideType": "genomic"
        },
        {
          "nucleotideExpression": {
            "syntax": "hgvs.c",
            "value": "NM_007294.4:c.5558dup"
          },
          "nucleotideType": "coding",
          "maneSelect": true,
          "proteinExpression": {
            "syntax": "hgvs.p",
            "value": "NP_009225.1:p.Tyr1853Ter"
          },
          "molecularConsequence": {
            "name": "stop_gained",
            "system": "http://www.sequenceontology.org/browser/",
            "systemVersion": "release_2.5.3",
            "code": "SO:0001587",
            "iris": [
              "http://www.sequenceontology.org/browser/release_2.5.3/term/SO:0001587"
            ]
          }
        }
      ]
    }
  ],
  "constraints": [
    {
      "type": "DefiningAlleleConstraint",
      "allele": {
        "id": "ga4gh:VA.BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n",
        "type": "Allele",
        "name": "NP_009225.1:p.Tyr1853Ter",
        "description": "VRS variation of NP_009225.1:p.Tyr1853Ter, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
        "digest": "BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n",
        "expressions": [
          {
            "syntax": "hgvs.g",
            "value": "NC_000017.11:g.43045712dup"
          },
          {
            "syntax": "hgvs.g",
            "value": "NC_000017.10:g.41197729dup"
          },
          {
            "syntax": "hgvs.c",
            "value": "NM_007294.4:c.5558dup"
          },
          {
            "syntax": "hgvs.p",
            "value": "NP_009225.1:p.Tyr1853Ter"
          }
        ],
        "location": {
          "id": "ga4gh:SL.bR3EOtSngkb9wNbixylsw0sNa_2HCga5",
          "description": "Amino acid position 1853 of the Refseq protein NP_009225.1, which is the protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4).",
          "type": "SequenceLocation",
          "digest": "bR3EOtSngkb9wNbixylsw0sNa_2HCga5",
          "sequenceReference": {
            "id": "refseq:NP_009225.1",
            "name": "NP_009225.1",
            "description": "The protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4), corresponding to the Refseq protein accession NP_009225.1.",
            "aliases": [
              "ensembl:ENSP00000350283.3",
              "ga4gh:SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y"
            ],
            "type": "SequenceReference",
            "refgetAccession": "SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y",
            "residueAlphabet": "aa"
          },
          "start": 1852,
          "end": 1853,
          "sequence": "Y"
        },
        "state": {
          "type": "LiteralSequenceExpression",
          "sequence": "*"
        }
      },
      "relations": [
        {
          "primaryCoding": {
            "code": "translation_of",
            "system": "http://www.sequenceontology.org",
            "iris": [
              "http://www.sequenceontology.org/browser/current_release/term/translation_of"
            ]
          }
        }
      ]
    }
  ],
  "mappings": [
    {
      "coding": {
        "system": "https://www.ncbi.nlm.nih.gov/clinvar",
        "code": "55628",
        "iris": [
          "https://www.ncbi.nlm.nih.gov/clinvar/variation/55628/"
        ]
      },
      "relation": "exactMatch"
    },
    {
      "coding": {
        "system": "https://reg.clinicalgenome.org/",
        "code": "CA003713",
        "iris": [
          "https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA003713"
        ]
      },
      "relation": "relatedMatch"
    },
    {
      "coding": {
        "system": "https://www.ncbi.nlm.nih.gov/snp",
        "code": "rs80357629",
        "iris": [
          "https://www.ncbi.nlm.nih.gov/snp/rs80357629"
        ]
      },
      "relation": "relatedMatch"
    }
  ],
  "members": [
    {
      "id": "ga4gh:VA.ju31SHNY7xeTI244BcOS7J78dIek46xL",
      "type": "Allele",
      "name": "NC_000017.11:g.43045712dup",
      "description": "VRS variation of NC_000017.11:g.43045712dup, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
      "digest": "ju31SHNY7xeTI244BcOS7J78dIek46xL",
      "expressions": [
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.11:g.43045712dup"
        },
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.10:g.41197729dup"
        },
        {
          "syntax": "hgvs.c",
          "value": "NM_007294.4:c.5558dup"
        },
        {
          "syntax": "hgvs.p",
          "value": "NP_009225.1:p.Tyr1853Ter"
        }
      ],
      "location": {
        "id": "ga4gh:SL.El1CbTY3p0rvxxkf5qI3YdgTo46YIjwl",
        "description": "Genomic position 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38).",
        "type": "SequenceLocation",
        "extensions": [
          {
            "name": "GRCh38 1-based, genomic position",
            "value": "chr17:43045712",
            "description": "Genomic position 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38)."
          },
          {
            "name": "GRCh38 1-based, inclusive interval notation",
            "value": "chr17:43045712-43045712",
            "description": "Genomic positions 43,045,712 to 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38); 1-based, inclusive interval notation."
          },
          {
            "name": "GRCh38 0-based, half-open interval notation",
            "value": "chr17:43045711-43045712",
            "description": "Genomic positions 43,045,711 to 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38); 0-based, half-open interval notation."
          }
        ],
        "digest": "El1CbTY3p0rvxxkf5qI3YdgTo46YIjwl",
        "sequenceReference": {
          "id": "refseq:NC_000017.11",
          "name": "NC_000017.11",
          "description": "Reference sequence for GRCh38 chromosome 17",
          "type": "SequenceReference",
          "refgetAccession": "SQ.dLZ15tNO1Ur0IcGjwc3Sdi_0A6Yf4zm7",
          "residueAlphabet": "na"
        },
        "start": 43045711,
        "end": 43045712,
        "sequence": "T"
      },
      "state": {
        "type": "ReferenceLengthExpression",
        "length": 2,
        "sequence": "TT",
        "repeatSubunitLength": 1
      }
    },
    {
      "id": "ga4gh:VA.UPNFCFuk1_6v7IzYbbQTV_PsYJ9WOwSa",
      "type": "Allele",
      "name": "NC_000017.10:g.41197729dup",
      "description": "VRS variation of NC_000017.10:g.41197729dup, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
      "digest": "UPNFCFuk1_6v7IzYbbQTV_PsYJ9WOwSa",
      "expressions": [
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.11:g.43045712dup"
        },
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.10:g.41197729dup"
        },
        {
          "syntax": "hgvs.c",
          "value": "NM_007294.4:c.5558dup"
        },
        {
          "syntax": "hgvs.p",
          "value": "NP_009225.1:p.Tyr1853Ter"
        }
      ],
      "location": {
        "id": "ga4gh:SL.bJxQ_soqGHGy4skIMKp6VLEB54XH32M8",
        "description": "Genomic position 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37).",
        "type": "SequenceLocation",
        "extensions": [
          {
            "name": "GRCh37 1-based, genomic position",
            "value": "chr17:41197729",
            "description": "Genomic position 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37)."
          },
          {
            "name": "GRCh37 1-based, inclusive interval notation",
            "value": "chr17:41197729-41197729",
            "description": "Genomic position 41,197,729 to 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37); 1-based, inclusive interval notation."
          },
          {
            "name": "GRCh37 0-based, half-open interval notation",
            "value": "chr17:41197728-41197729",
            "description": "Genomic position 41,197,728 to 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37); 0-based, half-open interval notation."
          }
        ],
        "digest": "bJxQ_soqGHGy4skIMKp6VLEB54XH32M8",
        "sequenceReference": {
          "id": "refseq:NC_000017.10",
          "name": "NC_000017.10",
          "description": "Reference sequence for GRCh37 chromosome 17.",
          "aliases": [
            "GRCh37:17",
            "GRCh37:chr17",
            "ga4gh:SQ.AjWXsI7AkTK35XW9pgd3UbjpC3MAevlz"
          ],
          "type": "SequenceReference",
          "refgetAccession": "SQ.AjWXsI7AkTK35XW9pgd3UbjpC3MAevlz",
          "residueAlphabet": "na"
        },
        "start": 41197728,
        "end": 41197729,
        "sequence": "T"
      },
      "state": {
        "type": "ReferenceLengthExpression",
        "length": 2,
        "sequence": "TT",
        "repeatSubunitLength": 1
      }
    },
    {
      "id": "ga4gh:VA.BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n",
      "type": "Allele",
      "name": "NP_009225.1:p.Tyr1853Ter",
      "description": "VRS variation of NP_009225.1:p.Tyr1853Ter, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
      "digest": "BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n",
      "expressions": [
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.11:g.43045712dup"
        },
        {
          "syntax": "hgvs.g",
          "value": "NC_000017.10:g.41197729dup"
        },
        {
          "syntax": "hgvs.c",
          "value": "NM_007294.4:c.5558dup"
        },
        {
          "syntax": "hgvs.p",
          "value": "NP_009225.1:p.Tyr1853Ter"
        }
      ],
      "location": {
        "id": "ga4gh:SL.bR3EOtSngkb9wNbixylsw0sNa_2HCga5",
        "description": "Amino acid position 1853 of the Refseq protein NP_009225.1, which is the protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4).",
        "type": "SequenceLocation",
        "digest": "bR3EOtSngkb9wNbixylsw0sNa_2HCga5",
        "sequenceReference": {
          "id": "refseq:NP_009225.1",
          "name": "NP_009225.1",
          "description": "The protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4), corresponding to the Refseq protein accession NP_009225.1.",
          "aliases": [
            "ensembl:ENSP00000350283.3",
            "ga4gh:SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y"
          ],
          "type": "SequenceReference",
          "refgetAccession": "SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y",
          "residueAlphabet": "aa"
        },
        "start": 1852,
        "end": 1853,
        "sequence": "Y"
      },
      "state": {
        "type": "LiteralSequenceExpression",
        "sequence": "*"
      }
    }
  ]
}

Full example: YAML

id: clinvar:55628
type: CategoricalVariant
name: NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
description: An example categorical variant that models NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) from ClinVar.
aliases:
  - NM_007294.4:c.5558dup
  - NP_009225.1:p.Tyr1853Ter
  - NP_009225.1:p.Y1853*
  - NM_007294.4(BRCA1):c.5558dup (p.Y1853*)
  - NC_000017.11:g.43045712dup
  - NC_000017.10:g.41197729dup
  - NC_000017.11:43045711:T:TT
extensions:
  - name: cytogenetic location
    value: 17q21.31
  - name: clinvar variation type
    value: Duplication
  - name: hgvs list
    value:
      - nucleotideExpression:
          syntax: hgvs.g
          value: NC_000017.11:g.43045712dup
        nucleotideType: genomic
      - nucleotideExpression:
          syntax: hgvs.g
          value: NC_000017.10:g.41197729dup
        nucleotideType: genomic
      - nucleotideExpression:
          syntax: hgvs.c
          value: NM_007294.4:c.5558dup
        nucleotideType: coding
        maneSelect: true
        proteinExpression:
          syntax: hgvs.p
          value: NP_009225.1:p.Tyr1853Ter
        molecularConsequence:
          name: stop_gained
          system: http://www.sequenceontology.org/browser/
          systemVersion: release_2.5.3
          code: SO:0001587
          iris:
            - http://www.sequenceontology.org/browser/release_2.5.3/term/SO:0001587
constraints:
  - type: DefiningAlleleConstraint
    allele:
      id: ga4gh:VA.BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n
      type: Allele
      name: NP_009225.1:p.Tyr1853Ter
      description: VRS variation of NP_009225.1:p.Tyr1853Ter, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
      digest: BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n
      expressions:
        - syntax: hgvs.g
          value: NC_000017.11:g.43045712dup
        - syntax: hgvs.g
          value: NC_000017.10:g.41197729dup
        - syntax: hgvs.c
          value: NM_007294.4:c.5558dup
        - syntax: hgvs.p
          value: NP_009225.1:p.Tyr1853Ter
      location:
        id: ga4gh:SL.bR3EOtSngkb9wNbixylsw0sNa_2HCga5
        description: Amino acid position 1853 of the Refseq protein NP_009225.1, which is the protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4).
        type: SequenceLocation
        digest: bR3EOtSngkb9wNbixylsw0sNa_2HCga5
        sequenceReference:
          id: refseq:NP_009225.1
          name: NP_009225.1
          description: The protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4), corresponding to the Refseq protein accession NP_009225.1.
          aliases:
            - ensembl:ENSP00000350283.3
            - ga4gh:SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y
          type: SequenceReference
          refgetAccession: SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y
          residueAlphabet: aa
        start: 1852
        end: 1853
        sequence: Y
      state:
        type: LiteralSequenceExpression
        sequence: '*'
    relations:
      - primaryCoding:
          code: translation_of
          system: http://www.sequenceontology.org
          iris:
            - http://www.sequenceontology.org/browser/current_release/term/translation_of
mappings:
  - coding:
      system: https://www.ncbi.nlm.nih.gov/clinvar
      code: '55628'
      iris:
        - https://www.ncbi.nlm.nih.gov/clinvar/variation/55628/
    relation: exactMatch
  - coding:
      system: https://reg.clinicalgenome.org/
      code: CA003713
      iris:
        - https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA003713
    relation: relatedMatch
  - coding:
      system: https://www.ncbi.nlm.nih.gov/snp
      code: rs80357629
      iris:
        - https://www.ncbi.nlm.nih.gov/snp/rs80357629
    relation: relatedMatch
members:
  - id: ga4gh:VA.ju31SHNY7xeTI244BcOS7J78dIek46xL
    type: Allele
    name: NC_000017.11:g.43045712dup
    description: VRS variation of NC_000017.11:g.43045712dup, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
    digest: ju31SHNY7xeTI244BcOS7J78dIek46xL
    expressions:
      - syntax: hgvs.g
        value: NC_000017.11:g.43045712dup
      - syntax: hgvs.g
        value: NC_000017.10:g.41197729dup
      - syntax: hgvs.c
        value: NM_007294.4:c.5558dup
      - syntax: hgvs.p
        value: NP_009225.1:p.Tyr1853Ter
    location:
      id: ga4gh:SL.El1CbTY3p0rvxxkf5qI3YdgTo46YIjwl
      description: Genomic position 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38).
      type: SequenceLocation
      extensions:
        - name: GRCh38 1-based, genomic position
          value: chr17:43045712
          description: Genomic position 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38).
        - name: GRCh38 1-based, inclusive interval notation
          value: chr17:43045712-43045712
          description: Genomic positions 43,045,712 to 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38); 1-based, inclusive interval notation.
        - name: GRCh38 0-based, half-open interval notation
          value: chr17:43045711-43045712
          description: Genomic positions 43,045,711 to 43,045,712 on chromosome 17 (refseq:NC_000017.11, GRCh38); 0-based, half-open interval notation.
      digest: El1CbTY3p0rvxxkf5qI3YdgTo46YIjwl
      sequenceReference:
        id: refseq:NC_000017.11
        name: NC_000017.11
        description: Reference sequence for GRCh38 chromosome 17
        type: SequenceReference
        refgetAccession: SQ.dLZ15tNO1Ur0IcGjwc3Sdi_0A6Yf4zm7
        residueAlphabet: na
      start: 43045711
      end: 43045712
      sequence: T
    state:
      type: ReferenceLengthExpression
      length: 2
      sequence: TT
      repeatSubunitLength: 1
  - id: ga4gh:VA.UPNFCFuk1_6v7IzYbbQTV_PsYJ9WOwSa
    type: Allele
    name: NC_000017.10:g.41197729dup
    description: VRS variation of NC_000017.10:g.41197729dup, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
    digest: UPNFCFuk1_6v7IzYbbQTV_PsYJ9WOwSa
    expressions:
      - syntax: hgvs.g
        value: NC_000017.11:g.43045712dup
      - syntax: hgvs.g
        value: NC_000017.10:g.41197729dup
      - syntax: hgvs.c
        value: NM_007294.4:c.5558dup
      - syntax: hgvs.p
        value: NP_009225.1:p.Tyr1853Ter
    location:
      id: ga4gh:SL.bJxQ_soqGHGy4skIMKp6VLEB54XH32M8
      description: Genomic position 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37).
      type: SequenceLocation
      extensions:
        - name: GRCh37 1-based, genomic position
          value: chr17:41197729
          description: Genomic position 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37).
        - name: GRCh37 1-based, inclusive interval notation
          value: chr17:41197729-41197729
          description: Genomic position 41,197,729 to 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37); 1-based, inclusive interval notation.
        - name: GRCh37 0-based, half-open interval notation
          value: chr17:41197728-41197729
          description: Genomic position 41,197,728 to 41,197,729 on chromosome 17 (refseq:NC_000017.10, GRCh37); 0-based, half-open interval notation.
      digest: bJxQ_soqGHGy4skIMKp6VLEB54XH32M8
      sequenceReference:
        id: refseq:NC_000017.10
        name: NC_000017.10
        description: Reference sequence for GRCh37 chromosome 17.
        aliases:
          - GRCh37:17
          - GRCh37:chr17
          - ga4gh:SQ.AjWXsI7AkTK35XW9pgd3UbjpC3MAevlz
        type: SequenceReference
        refgetAccession: SQ.AjWXsI7AkTK35XW9pgd3UbjpC3MAevlz
        residueAlphabet: na
      start: 41197728
      end: 41197729
      sequence: T
    state:
      type: ReferenceLengthExpression
      length: 2
      sequence: TT
      repeatSubunitLength: 1
  - id: ga4gh:VA.BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n
    type: Allele
    name: NP_009225.1:p.Tyr1853Ter
    description: VRS variation of NP_009225.1:p.Tyr1853Ter, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
    digest: BfZ-RbjStWkafMsFBcoSL0f4aAjHJU4n
    expressions:
      - syntax: hgvs.g
        value: NC_000017.11:g.43045712dup
      - syntax: hgvs.g
        value: NC_000017.10:g.41197729dup
      - syntax: hgvs.c
        value: NM_007294.4:c.5558dup
      - syntax: hgvs.p
        value: NP_009225.1:p.Tyr1853Ter
    location:
      id: ga4gh:SL.bR3EOtSngkb9wNbixylsw0sNa_2HCga5
      description: Amino acid position 1853 of the Refseq protein NP_009225.1, which is the protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4).
      type: SequenceLocation
      digest: bR3EOtSngkb9wNbixylsw0sNa_2HCga5
      sequenceReference:
        id: refseq:NP_009225.1
        name: NP_009225.1
        description: The protein product of the MANE Select (GRCh38) coding transcript for BRCA1 (refseq:NM_007294.4), corresponding to the Refseq protein accession NP_009225.1.
        aliases:
          - ensembl:ENSP00000350283.3
          - ga4gh:SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y
        type: SequenceReference
        refgetAccession: SQ.nUzIPnHMyQV52hzgBbKl5vlbSwx8M8_Y
        residueAlphabet: aa
      start: 1852
      end: 1853
      sequence: Y
    state:
      type: LiteralSequenceExpression
      sequence: '*'