ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA

dbSNP: rs1554098191
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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 RCV000563637 SCV000671790 likely pathogenic Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing The c.886-4_890delACAGGTTTTinsCAAATAAA intronic variant spans the splice acceptor site for coding exon 7 of the RAD50 gene and results from the deletion of 9 nucleotides and insertion of 8 nucleotides. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 175000 alleles tested) in our clinical cohort. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). As such, the c.886-4_890delACAGGTTTTinsCAAATAAA variant is classified as likely pathogenic.

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