ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) (rs80359077)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082678 SCV000073502 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130784 SCV000185677 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000220216 SCV000278880 likely benign not specified 2017-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000130784 SCV000683960 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588037 SCV000695146 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8356G>A (p.Ala2786Thr) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 8/122244 control chromosomes (1 homozygote), predominantly observed in the East Asian subpopulation at a frequency of 0.0008092 (7/8650). This frequency is about the same frequency as the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting it may be a benign polymorphism found primarily in the populations of East Asian origin. The variant of interest has been reported in the literature in affected individuals of Chinese origin, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS until additional clinical and functional evidence become available.
Counsyl RCV000077436 SCV000786060 uncertain significance Breast-ovarian cancer, familial 2 2018-02-15 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677863 SCV000804024 uncertain significance Malignant tumor of prostate 2017-07-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588037 SCV001133932 uncertain significance not provided 2019-03-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077436 SCV000109234 likely benign Breast-ovarian cancer, familial 2 2012-06-19 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077436 SCV000147331 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing

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