ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.706-2A>C

dbSNP: rs587780259
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777161 SCV000912852 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
Invitae RCV001063152 SCV001227987 pathogenic Fanconi anemia complementation group O 2023-02-14 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site results in skipping of exon 5, but is expected to preserve the integrity of the reading-frame (PMID: 22006311, 24139550, 33333735). This sequence change affects an acceptor splice site in intron 4 of the RAD51C gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with breast cancer and ovarian cancer (PMID: 22006311, 22538716, 24549055, 25452441, 26261251, 26681312, 29255180, 31300551). ClinVar contains an entry for this variant (Variation ID: 631112). This variant disrupts a region of the RAD51C protein in which other variant(s) (p.Arg258His) have been determined to be pathogenic (PMID: 20400963, 22167183, 26354865). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000777161 SCV002661541 likely pathogenic Hereditary cancer-predisposing syndrome 2017-10-13 criteria provided, single submitter clinical testing The c.706-2A>C intronic variant results from an A to C substitution two nucleotides upstream from coding exon 5 in the RAD51C 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 acceptor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002501009 SCV002809891 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2021-12-06 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001195023 SCV001365270 pathogenic not provided 2019-12-23 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Florentia Fostira.

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