NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: May 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000526079.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)]

NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)
HGVS:
  • NC_000013.11:g.32333385C>G
  • NG_012772.3:g.22906C>G
  • NM_000059.3:c.1907C>G
  • NP_000050.2:p.Ser636Ter
  • LRG_293t1:c.1907C>G
  • LRG_293:g.22906C>G
  • LRG_293p1:p.Ser636Ter
  • NC_000013.10:g.32907522C>G
Nucleotide change:
2135C>G
Protein change:
S636*
Links:
dbSNP: rs431825288
NCBI 1000 Genomes Browser:
rs431825288
Molecular consequence:
  • NM_000059.3:c.1907C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000635186Invitaecriteria provided, single submitter
Pathogenic
(May 10, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000635186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 636 (p.Ser636*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2021

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