ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)

dbSNP: rs587782286
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166223 SCV000186089 pathogenic Hereditary cancer-predisposing syndrome 2013-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166223 SCV000217002 pathogenic Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter clinical testing The c.653_654delAG pathogenic mutation, located in coding exon 4 of the RAD51C gene, results from a deletion of two nucleotides between nucleotide positions 653 and 654, causing a translational frameshift with a predicted alternate stop codon (p.E218Vfs*33). This alteration has been observed in multiple individuals and families with high risk breast and ovarian cancer (Song H et al. J. Clin. Oncol. 2015 Sep;33(26):2901-7; Maxwell KN et al. Am. J. Hum. Genet. 2016 May;98:801-817; Suszynska M et al. J Ovarian Res, 2020 May;13:50). In addition, this mutation is also designated as 651_652delAG in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
CeGaT Center for Human Genetics Tuebingen RCV000996589 SCV001151382 likely pathogenic not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001385150 SCV001584910 pathogenic Fanconi anemia complementation group O 2023-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu218Valfs*33) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 26261251). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002498821 SCV002807061 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2021-08-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462204 SCV004208046 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2022-01-10 criteria provided, single submitter clinical testing

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