ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2680_2687del (p.Lys894fs)

dbSNP: rs1555589143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534199 SCV000635861 pathogenic Hereditary breast ovarian cancer syndrome 2017-05-04 criteria provided, single submitter clinical testing 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. This sequence change deletes 8 nucleotides from exon 10 of the BRCA1 mRNA (c.2680_2687delAAACAAAG), causing a frameshift at codon 894. This creates a premature translational stop signal (p.Lys894Serfs*6) and is expected to result in an absent or disrupted protein product.

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