ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8488-19G>A (rs398122607)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227411 SCV000283344 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588461 SCV000695158 uncertain significance not specified 2019-08-22 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8488-19G>A alters a 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 4.8e-05 in 251120 control chromosomes, predominantly at a frequency of 0.00035 within the Latino subpopulation in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (4.8e-05 vs 0.00075), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.8488-19G>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (3x Likely benign). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Counsyl RCV000077031 SCV000785403 likely benign Breast-ovarian cancer, familial 2 2017-07-24 criteria provided, single submitter clinical testing
Color RCV000771215 SCV000903269 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077031 SCV000108828 likely benign Breast-ovarian cancer, familial 2 2012-03-20 no assertion criteria provided clinical testing

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