ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6842-14A>G (rs81002821)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045074 SCV000073087 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587823 SCV000695000 uncertain significance not specified 2018-05-08 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6842-14A>G alters a conserved nucleotide resulting in an intronic change. This variant is located at a position that is not widely known to affect splicing. 3/5 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 3.2e-05 in 30952 control chromosomes. 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.6842-14A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two internal samples carried likely pathogenic variants (PALB2 c.2218C>T/p.Q740* and BRCA2 c.3076_3077delAA/p.Lys1026fsX9, respectively), supporting a non-pathogenic role for variant of interest. One other clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance-possibly benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113664 SCV000146957 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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