ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)

dbSNP: rs2047958236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067329 SCV001232383 pathogenic Fanconi anemia complementation group O 2019-11-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant has been observed in an individual affected with ovarian cancer (PMID: 26057125). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro127Argfs*28) in the RAD51C gene. It is expected to result in an absent or disrupted protein product.
MGZ Medical Genetics Center RCV002290581 SCV002579367 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002355089 SCV002622695 pathogenic Hereditary cancer-predisposing syndrome 2020-08-19 criteria provided, single submitter clinical testing The c.379_380insG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from an insertion of one nucleotide at position 379, causing a translational frameshift with a predicted alternate stop codon (p.P127Rfs*28). This alteration was identified in a high-risk BRCA1/BRCA2 negative individual diagnosed with ovarian cancer (Janatova M et al. PLoS ONE, 2015 Jun;10:e0127711). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
CZECANCA consortium RCV001271005 SCV001451817 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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