ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs) (rs431825389)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083026 SCV000299698 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000560230 SCV000635829 pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-16 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the BRCA1 mRNA (c.2101_2102delAA), causing a frameshift at codon 701. This creates a premature translational stop signal (p.Lys701Valfs*10) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Color RCV001191625 SCV001359515 pathogenic Hereditary cancer-predisposing syndrome 2020-01-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083026 SCV000115100 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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