ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.67+2del

dbSNP: rs863224439
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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 RCV000195654 SCV000253670 likely pathogenic Hereditary breast ovarian cancer syndrome 2015-01-21 criteria provided, single submitter clinical testing This variant affects a a donor splice site in intron 2. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Likely Pathogenic.

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