ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.363del (p.Ala122fs) (rs730881935)

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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 RCV000160929 SCV000276848 pathogenic Hereditary cancer-predisposing syndrome 2017-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000160929 SCV000911361 pathogenic Hereditary cancer-predisposing syndrome 2017-11-23 criteria provided, single submitter clinical testing
Counsyl RCV000545167 SCV000784779 likely pathogenic Breast-ovarian cancer, familial 4 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000412677 SCV000211635 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing This deletion of one nucleotide in RAD51D is denoted c.363delA at the cDNA level and p.Ala122GlnfsX14 (A122QfsX14) at the protein level. The normal sequence, with the base that is deleted in brackets, is TGGC[delA]GCAA. The deletion causes a frameshift, which changes an Alanine to a Glutamine at codon 122, and creates a premature stop codon at position 14 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. RAD51D c.363delA has been seen in a woman with bilateral breast cancer and a family history of ovarian, colon and prostate cancer (Loveday 2011). We consider this variant to be pathogenic.
Invitae RCV000545167 SCV000651740 pathogenic Breast-ovarian cancer, familial 4 2018-11-07 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 5 of the RAD51D mRNA (c.363delA), causing a frameshift at codon 122. This creates a premature translational stop signal (p.Ala122Glnfs*14) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic. This particular variant has been reported in the literature in an individual with early onset breast cancer (PMID: 21822267). ClinVar contains an entry for this variant (Variation ID: 182840). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000709443 SCV000839187 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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