ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5467+2T>C (rs80358009)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162889 SCV000213376 likely pathogenic Hereditary cancer-predisposing syndrome 2017-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Breast Cancer Information Core (BIC) (BRCA1) RCV000112659 SCV000145522 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112659 SCV000326320 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586131 SCV000699241 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-24 criteria provided, single submitter clinical testing Variant summary: The c.5467+2T>C in a BRCA1 gene is a splice-site variant that alters a conserved nucleotide. 5/5 in silico tools via Alamut predict this variant to disrupt a canonical donor sequence, however these predictions have yet to be confirmed by functional assay. The variant is absent from ExAC and been reported in affected individual(s) via publications and/or reputable database/clinical laboratory as Likely Pathogenic. Taken together, the variant was classified as Likely Pathogenic until additional information becomes available.

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