ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.230del (p.Gly77fs)

dbSNP: rs1057519355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015159 SCV001175966 pathogenic Hereditary cancer-predisposing syndrome 2023-05-26 criteria provided, single submitter clinical testing The c.230delG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 230, causing a translational frameshift with a predicted alternate stop codon (p.G77Vfs*24). This variant has been reported in a patient with high-grade serous ovarian cancer and metachronous breast cancer; her ovarian tumor showed loss of the wild type allele (Thompson ER et al. Hum. Mutat., 2012 Jan;33:95-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493412 SCV004242883 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
OMIM RCV000024265 SCV000045556 risk factor Breast-ovarian cancer, familial, susceptibility to, 3 2012-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195013 SCV001365251 pathogenic Neoplasm of ovary 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Ian Campbell.
BRCAlab, Lund University RCV000024265 SCV002589009 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2022-08-26 no assertion criteria provided clinical testing

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