ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.308_310del (p.Phe103del) (rs1064794253)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569826 SCV000667134 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000480944 SCV000568393 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in RAD51C is denoted c.308_310delTCT at the cDNA level and p.Phe103del (F103del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACCT[delTCT]GTTC. This deletion occurs in a region that is conserved across species and is located in the region required for Holliday junction resolution activity and with the region interaction with RAD51B, RAD51D, and XRCC3 (Miller 2004, UniProt). This variant was observed in at least one individual with a personal and/or family history of breast cancer (Thompson 2012). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider RAD51C c.308_310delTCT to be a variant of uncertain significance.
Invitae RCV000698641 SCV000827321 uncertain significance Fanconi anemia, complementation group O 2018-03-15 criteria provided, single submitter clinical testing This variant, c.308_310delTCT, results in the deletion of 1 amino acid(s) of the RAD51C protein (p.Phe103del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with a personal and/or family history of breast cancer (PMID: 21990120). ClinVar contains an entry for this variant (Variation ID: 420040). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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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