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NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) AND Hereditary breast and ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000045489.6

Allele description

NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr)

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.8356G>A (p.Ala2786Thr)
HGVS:
  • NC_000013.11:g.32370426G>A
  • NG_012772.3:g.59947G>A
  • NM_000059.3:c.8356G>A
  • NP_000050.2:p.Ala2786Thr
  • LRG_293t1:c.8356G>A
  • LRG_293:g.59947G>A
  • LRG_293p1:p.Ala2786Thr
  • NC_000013.10:g.32944563G>A
  • U43746.1:n.8584G>A
  • p.A2786T
Nucleotide change:
8584G>A
Protein change:
A2786T
Links:
dbSNP: rs80359077
NCBI 1000 Genomes Browser:
rs80359077
Molecular consequence:
  • NM_000059.3:c.8356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073502Invitae
criteria provided, single submitter

(Nykamp K et al. (Genet Med 2017))		Uncertain significance
(Jan 30, 2018) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.

BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.

PubMed [citation]
PMID:
28222693
PMCID:
PMC5320733

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

PubMed [citation]
PMID:
18627636
PMCID:
PMC2575532
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV000073502.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change replaces alanine with threonine at codon 2786 of the BRCA2 protein (p.Ala2786Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs80359077, ExAC 0.08%). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 18627636, 14973102, 27376475, 26221963, 26689913, 28222693, Invitae). However, in one of these individuals a pathogenic allele was also identified in BRCA1, which suggests that this c.8356G>A variant was not the primary cause of disease. This variant is also known as 8584G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 52560). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 7, 2019