ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2849T>A (p.Val950Asp) (rs80358535)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222954 SCV000274233 likely benign Hereditary cancer-predisposing syndrome 2016-11-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Integrated Genetics/Laboratory Corporation of America RCV000587157 SCV000694639 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing 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.
Color RCV000222954 SCV001358931 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-02 criteria provided, single submitter clinical testing
ITMI RCV000120346 SCV000084498 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000113105 SCV000146130 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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