ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1141G>A (p.Asp381Asn) (rs398122723)

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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 RCV000130742 SCV000185633 likely benign Hereditary cancer-predisposing syndrome 2017-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
GeneDx RCV000160182 SCV000210525 likely benign not specified 2017-07-13 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.
Invitae RCV000590299 SCV000261474 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160182 SCV000600466 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590299 SCV000694512 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing Variant summary: The c.1141G>A variant involves the alteration of a non-conserved nucleotide and 4/4 in silico tools predict a neutral outcome. The variant was observed in the large, broad control population, ExAC, with an allele frequency of 0.007%, but is exclusively observed in the Latino population at a frequency of 0.070%. This frequency is near the maximum expected allele frequency for a pathogenic BRCA2 variant of 0.075%, suggesting this may be a benign polymorphism found in the Latino population. The variant has been reported in one affected individual in the literature, without strong evidence for causality. Multiple reputable clinical labs have classified the variant as "likely benign", and one lab stated the variant was seen to co-occur with a pathogenic BRCA2 in one individual, suggesting this variant is not the primary cause of disease in this patient. However, the identity of this co-occurring variant has not been presented. Therefore, this evidence cannot be weighted strongly into this classification. Taken together, this variant has been classified as a VUS until additional evidence becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590299 SCV000887748 likely benign not provided 2019-02-23 criteria provided, single submitter clinical testing
Color RCV000130742 SCV000903805 benign Hereditary cancer-predisposing syndrome 2016-01-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077655 SCV000109458 likely benign Breast-ovarian cancer, familial 2 2012-04-24 no assertion criteria provided clinical testing

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