ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.134+19dup

gnomAD frequency: 0.00001  dbSNP: rs768647585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776483 SCV000912060 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781036 SCV000918805 uncertain significance not specified 2018-12-17 criteria provided, single submitter clinical testing Variant summary: The variant, BRCA1 c.134+19dupT 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. However, 5/5 computational tools predict no significant impact on normal splicing. These predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 243598 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.134+19dupT in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001446120 SCV001649162 likely benign Hereditary breast ovarian cancer syndrome 2022-08-07 criteria provided, single submitter clinical testing

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