ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.671-215_901del

dbSNP: rs1555592870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258455 SCV000326383 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001378600 SCV001576203 likely pathogenic Hereditary breast ovarian cancer syndrome 2024-10-28 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 10 (c.671-215_901del) of the BRCA1 gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 267615). Studies have shown that this variant results in skipping of exon 10 or part of exon 10, and produces a non-functional protein and/or introduces a premature termination codon (internal data). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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