ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9311_9312insTTAT (p.Lys3104fs)

dbSNP: rs886040830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460564 SCV000549755 pathogenic Hereditary breast ovarian cancer syndrome 2016-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This sequence change inserts 4 nucleotides in exon 25 of the BRCA2 mRNA (c.9311_9312insTTAT), causing a frameshift at codon 3104. This creates a premature translational stop signal (p.Lys3104Asnfs*8) and is expected to result in an absent or disrupted protein product.

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