ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.326dup (p.Gly110fs)

dbSNP: rs730882119
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160938 SCV000211645 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26681312, 27433846, 27153395)
Eurofins Ntd Llc (ga) RCV000160938 SCV000230199 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178184 SCV000651731 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly110Argfs*2) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). This variant is present in population databases (rs730882119, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with prostate cancer and breast and ovarian cancer (PMID: 27153395, 27433846). ClinVar contains an entry for this variant (Variation ID: 182849). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000575464 SCV000663806 pathogenic Hereditary cancer-predisposing syndrome 2022-03-03 criteria provided, single submitter clinical testing The c.326dupC pathogenic mutation, located in coding exon 4 of the RAD51D gene, results from a duplication of C at nucleotide position 326, causing a translational frameshift with a predicted alternate stop codon (p.G110Rfs*2). 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.
Counsyl RCV000178184 SCV000677810 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2017-05-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000575464 SCV001359509 pathogenic Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 4 of the RAD51D gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with colorectal cancer or prostate cancer (PMID: 26681312, 27433846). This variant has been identified in 2/251280 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51D function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV000178184 SCV004017759 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2023-04-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV000178184 SCV004200371 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2023-09-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160938 SCV004220168 pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the RAD51D mRNA and causes the premature termination of RAD51D protein synthesis. The frequency of this variant in the general population, 0.000008 (2/251280 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with breast and/or ovarian cancer (PMID: 27153395 (2016)), prostate cancer (PMID: 27433846 (2016)), and colorectal cancer (PMID: 27433846 (2015)). Based on the available information, this variant is classified as pathogenic.
Revvity Omics, Revvity RCV000160938 SCV004238117 pathogenic not provided 2019-08-19 criteria provided, single submitter clinical testing

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.