ClinVar Miner

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

dbSNP: rs878854562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058766 SCV001223358 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-05-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 4 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has not been reported in the literature in individuals with RAD51D-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.
Color Diagnostics, LLC DBA Color Health RCV001178775 SCV001343287 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-04 criteria provided, single submitter clinical testing This variant causes an A>C nucleotide substitution at the +5 position of intron 4 of the RAD51D gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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