ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.571+5G>A (rs145779113)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561973 SCV000663769 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Baylor Genetics RCV000195473 SCV000598657 likely pathogenic Fanconi anemia, complementation group O 2017-08-01 no assertion criteria provided clinical testing This +5 splice variant has been observed in a newborn patient with Fanconi anemia. The diagnosis was confirmed by chromosome breakage analysis. Heterozygous carriers are expected to be asymptomatic carriers
Color RCV000561973 SCV000691251 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-25 criteria provided, single submitter clinical testing
Invitae RCV000195473 SCV000255190 uncertain significance Fanconi anemia, complementation group O 2019-01-10 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the RAD51C gene. It does not directly change the encoded amino acid sequence of the RAD51C protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs145779113, ExAC 0.03%). This variant has been observed in an individual affected with breast cancer (PMID: 21597919). Additionally, this variant has been reported on the opposite chromosome (in trans) from another variant in RAD51C in an individual with clinical features also observed in Fanconi anemia (PMID: 29278735). ClinVar contains an entry for this variant (Variation ID: 216805). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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