NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781116.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr)]

NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr)

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.4759G>A (p.Ala1587Thr)
HGVS:
  • NC_000013.11:g.32339114G>A
  • NG_012772.3:g.28635G>A
  • NM_000059.3:c.4759G>A
  • NP_000050.2:p.Ala1587Thr
  • LRG_293t1:c.4759G>A
  • LRG_293:g.28635G>A
  • LRG_293p1:p.Ala1587Thr
  • NC_000013.10:g.32913251G>A
  • p.A1587T
Protein change:
A1587T
Links:
dbSNP: rs56137239
NCBI 1000 Genomes Browser:
rs56137239
Molecular consequence:
  • NM_000059.3:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000918957Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jul 30, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.

Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.

PubMed [citation]
PMID:
25479140
PMCID:
PMC4339623

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918957.2

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

Description

Variant summary: BRCA2 c.4759G>A (p.Ala1587Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250734 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.4759G>A, has been reported in the literature in one individual affected with Pancreatic Cancer (Grant_2015). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=4) or likely benign (n=1). 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: Jun 14, 2021

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