ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) (rs80358402)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131732 SCV000186772 likely benign Hereditary cancer-predisposing syndrome 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000112851 SCV000145768 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000131732 SCV000683399 likely benign Hereditary cancer-predisposing syndrome 2017-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000112851 SCV000785078 likely benign Breast-ovarian cancer, familial 2 2017-04-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212295 SCV000592318 uncertain significance not specified 2015-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000212295 SCV000108594 likely benign not specified 2017-11-16 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 RCV000212295 SCV000918936 uncertain significance not specified 2018-01-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.10222A>T (p.Lys3408X) variant results in truncation of the last 10 amino acids in the last exon; therefore it is unexpected to cause nonsense-mediated decay. Truncations downstream of this position have not been classified as pathogenic by our laboratory and others in ClinVar. This variant was found in 3/296594 control chromosomes (gnomAD and FLOSSIES db) at a frequency of 0.0000101, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The BRCA2 c.9976A>T (p.Lys3326*) variant, located upstream of this variant and also in the last exon of the gene, is a known benign variant suggesting that the truncation of the last 93 amino acids of BRCA2 is unlikely to be pathogenic for breast and/or ovarian cancer. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Multiple clinical diagnostic laboratories have recently classified this variant as likely benign (4), benign (1) or uncertain significance (1). Taken together this variant is classified as Variant of Unknown Significance-Possibly Benign.
Invitae RCV000074509 SCV000071741 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212295 SCV000600458 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759573 SCV000888974 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing

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