ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) (rs80359198)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164250 SCV000214874 likely benign Hereditary cancer-predisposing syndrome 2015-07-19 criteria provided, single submitter clinical testing
Color RCV000164250 SCV000684049 likely benign Hereditary cancer-predisposing syndrome 2017-02-26 criteria provided, single submitter clinical testing
Counsyl RCV000495427 SCV000784922 likely benign Breast-ovarian cancer, familial 2 2017-02-06 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495427 SCV000578963 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02;
GeneDx RCV000430642 SCV000512397 benign not specified 2015-08-08 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 RCV000430642 SCV000919038 uncertain significance not specified 2018-12-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9285C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.9e-05 in 277048 control chromosomes, predominantly at a frequency of 0.00064 within the East Asian subpopulation in the gnomAD database. This frequency is approximately equal to the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.00075), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. c.9285C>T has been reported in the literature in individuals affected with Breast and/or Ovarian Cancer without strong evidence for causality (Zuntini_2018, Zhong_2016, Suter_2004). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight ClinVar submissions from clinical diagnostic/research laboratories and reputable databases (evaluation after 2014) cite the variant as benign (1x), likely benign (5x) and twice as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000206162 SCV000261812 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-19 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240721 SCV000265967 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430642 SCV000600854 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing

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