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NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2021
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:
RCV001526904.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)]

NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
Other names:
E2571G
HGVS:
  • NC_000013.11:g.32326548A>G
  • NG_012772.3:g.16069A>G
  • NM_000059.4:c.566A>GMANE SELECT
  • NP_000050.2:p.Asp189Gly
  • NP_000050.3:p.Asp189Gly
  • LRG_293t1:c.566A>G
  • LRG_293:g.16069A>G
  • LRG_293p1:p.Asp189Gly
  • NC_000013.10:g.32900685A>G
  • NM_000059.3:c.566A>G
Nucleotide change:
794A>G
Protein change:
D189G
Links:
dbSNP: rs397507359
NCBI 1000 Genomes Browser:
rs397507359
Molecular consequence:
  • NM_000059.4:c.566A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737650Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 27, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Derbel O, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger S, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, et al.

Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30.

PubMed [citation]
PMID:
29084914

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001737650.1

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

Description

Variant summary: BRCA2 c.566A>G (p.Asp189Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251414 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. It is unclear if the actual c.566A>G variant was detected in an individual affected with ovarian cancer or not (Labidi-Galy_2018). This report does not allow any conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024