ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) (rs55847618)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586082 SCV000885115 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129187 SCV000183923 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077474 SCV000147709 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129187 SCV000902978 benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000077474 SCV000489530 uncertain significance Breast-ovarian cancer, familial 2 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000045895 SCV000210518 likely benign not specified 2018-01-20 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 RCV000586082 SCV000695271 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9770A>G (p.Lys3257Arg) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). In ExAC, a large control database, this variant was found in 7/121394 control chromosomes at a frequency of 0.0000577, predominantly in the African cohort, 6/10404 (0.0005767), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple publications have cited the variant in affected individuals, although with limited information (ie, co-occurrence and cosegregation data). Internal LCA samples have reported the variant to co-occur with another pathogenic BRCA2 variant, c.4712_4713delAG in 2 individuals and ClinVar - SCRP also reports the same co-occurrence in another sample, along with a LCA sample reporting a co-occurrence of a PMS2 variant, c.2186_2187delTC. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000167776 SCV000073908 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077474 SCV000109272 uncertain significance Breast-ovarian cancer, familial 2 2009-08-12 no assertion criteria provided clinical testing

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