ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2922+1G>A (rs1581004749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017508 SCV001178597 likely pathogenic Hereditary cancer-predisposing syndrome 2019-01-10 criteria provided, single submitter clinical testing The c.2922+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 18 of the RAD50 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. 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.
CZECANCA consortium RCV001271001 SCV001451813 likely pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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