ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.345+5A>G

gnomAD frequency: 0.00001  dbSNP: rs878854562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227112 SCV000287706 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001711633 SCV000516024 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000438243 SCV000602156 uncertain significance not specified 2017-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020336 SCV001181801 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-23 criteria provided, single submitter clinical testing The c.345+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 4 in the RAD51D gene. This nucleotide position is not well conserved on limited sequence alignment. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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