ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8755-17A>G (rs431825370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580630 SCV000683995 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779976 SCV000916950 uncertain significance not specified 2018-04-12 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8755-17A>G 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 8.2e-06 in 244448 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (8.2e-06 vs 0.00075), allowing no conclusion about variant significance. c.8755-17A>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Pellegrino_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One 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 VUS - possibly benign.
Invitae RCV000900795 SCV001045135 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082994 SCV000115068 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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