ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter)

dbSNP: rs1555568473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527833 SCV000651733 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln115*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 472599). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV000777271 SCV000912973 pathogenic Hereditary cancer-predisposing syndrome 2023-01-09 criteria provided, single submitter clinical testing This missense variant replaces glutamine with a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. In addition, this variant has been shown to affect splicing in a mini-gene assay and in a breast cancer cell line, resulting in multiple abnormal transcripts including out-of-frame deletion of exon 4 or exons 4-5, as well as in-frame deletion of exons 3-5 that encode a functionally important ATPase domain (PMID: 34200360). This variant has not been identified 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.
Sema4, Sema4 RCV000777271 SCV002534798 pathogenic Hereditary cancer-predisposing syndrome 2022-01-25 criteria provided, single submitter curation
Ambry Genetics RCV000777271 SCV002615197 pathogenic Hereditary cancer-predisposing syndrome 2024-08-28 criteria provided, single submitter clinical testing The p.Q115* pathogenic mutation (also known as c.343C>T), located in coding exon 4 of the RAD51D gene, results from a C to T substitution at nucleotide position 343. This changes the amino acid from a glutamine to a stop codon within coding exon 4. 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.
Myriad Genetics, Inc. RCV000527833 SCV004933231 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-04 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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