ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) (rs80359129)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130464 SCV000185329 likely benign Hereditary cancer-predisposing syndrome 2017-01-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Breast Cancer Information Core (BIC) (BRCA2) RCV000031763 SCV000147441 uncertain significance Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Color RCV000130464 SCV000683993 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000031763 SCV000487777 uncertain significance Breast-ovarian cancer, familial 2 2015-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000045605 SCV000210479 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.
Integrated Genetics/Laboratory Corporation of America RCV000590249 SCV000695176 likely benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.8702G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Asp. 4/4 in-silico tools predict damaging outcome for this variant. This variant is found in 14/121646 control chromosomes from ExAC at a frequency of 0.0001151. It was predominantly reported in East Asian subpopulation with an allele frequency of 0.0016 which is about 2.15 times higher than the maximum expected allele frequency of a pathogenic variant in this gene suggesting that it is likely to be a polymorphism in East Asians. The variant has been reported in several breast and/or ovarian cancer patients/families, mainly of East Asian origin, without strong evidence for pathogenicity. In one patient with thyroid and breast cancer, a truncating mutation PTEN c. 590delA was also found, possibly suggesting for an alternative disease mechanism. In addition, it was also found in once in each of benign breast cancer patient and healthy control cohorts, possibly suggesting a benign outcome. Functional studies (HDR, cell viability and drug sensitivity assays) shows neutral outcome for this variant. Three out of five clinical labs have also classified this variant as likely benign/benign (other two as uncertain significance). Taken together, this variant has currently been classified as likely benign.
Invitae RCV000195309 SCV000073618 benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031763 SCV000054371 likely benign Breast-ovarian cancer, familial 2 2010-01-22 no assertion criteria provided clinical testing

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