ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)

dbSNP: rs1598449660
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010939 SCV001171204 pathogenic Hereditary cancer-predisposing syndrome 2022-01-14 criteria provided, single submitter clinical testing The p.E45* pathogenic mutation (also known as c.133G>T), located in coding exon 1 of the RAD51C gene, results from a G to T substitution at nucleotide position 133. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This alteration was seen in a Japanese patient with unilateral breast cancer (Kaneyasu T et al. NPJ Breast Cancer, 2020 Jun;6:25). 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030585 SCV001193721 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Invitae RCV001860653 SCV002145666 pathogenic Fanconi anemia complementation group O 2021-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818891). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32566746). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu45*) 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.