ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.211_263+3141del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417471 SCV002725964 likely pathogenic Hereditary cancer-predisposing syndrome 2021-09-01 criteria provided, single submitter clinical testing The c.211_263+3141del3194 gross deletion spans a portion of coding exon 3 into intron 3 in the RAD51D gene. This deletion encompasses the native splice donor site. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however direct evidence is insufficient at this time (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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