NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587157.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)]

NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)

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.2849T>A (p.Val950Asp)
HGVS:
  • NC_000013.11:g.32337204T>A
  • NG_012772.3:g.26725T>A
  • NM_000059.4:c.2849T>AMANE SELECT
  • NP_000050.2:p.Val950Asp
  • NP_000050.3:p.Val950Asp
  • LRG_293t1:c.2849T>A
  • LRG_293:g.26725T>A
  • LRG_293p1:p.Val950Asp
  • NC_000013.10:g.32911341T>A
  • NM_000059.3:c.2849T>A
  • U43746.1:n.3077T>A
Protein change:
V950D
Links:
dbSNP: rs80358535
NCBI 1000 Genomes Browser:
rs80358535
Molecular consequence:
  • NM_000059.4:c.2849T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000694639Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 6, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA.

Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8.

PubMed [citation]
PMID:
23929434

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The BRCA2 c.2849T>A (p.Val950Asp) variant causes a missense change involving a non-conserved nucleotide with 3/5 in silico tools predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120650 (1/60325), predominantly in the South Asian cohort, 2/16494 (1/8247), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has not been reported in affected individuals via publications. Multiple clinical diagnostic laboratories cite the variant as "uncertain significance." Therefore, due to the limited available information (ie, lack of clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Dec 4, 2021

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