ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8332-6G>T (rs587780872)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580592 SCV000683958 likely benign Hereditary cancer-predisposing syndrome 2016-09-12 criteria provided, single submitter clinical testing
Counsyl RCV000663037 SCV000786076 uncertain significance Breast-ovarian cancer, familial 2 2018-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000124008 SCV000167410 benign not specified 2014-02-17 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 RCV000124008 SCV000919022 uncertain significance not specified 2018-11-08 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8332-6G>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 1.2e-05 in 246198 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.8332-6G>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign (3x) and once as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000456541 SCV000560395 likely benign Hereditary breast and ovarian cancer syndrome 2017-03-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000124008 SCV000600794 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing

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