ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7435+17del

dbSNP: rs1472572621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587964 SCV000695063 uncertain significance not specified 2019-10-07 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7435+17delT 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 4e-06 in 249700 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.7435+17delT in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One other clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Color Diagnostics, LLC DBA Color Health RCV000772489 SCV000905668 likely benign Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV001079038 SCV001084888 likely benign Hereditary breast ovarian cancer syndrome 2023-07-28 criteria provided, single submitter clinical testing

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