ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.222_230del (p.Gln74_Asp77delinsHis)

dbSNP: rs1580984946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014838 SCV001175600 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing The c.222_230delAGAAACAGA variant (also known as p.Q74_D77delinsH) is located in coding exon 3 of the RAD50 gene. This variant results from an in-frame AGAAACAGA deletion at nucleotide positions 222 to 230. This results in the substitution of QETD residues at amino acid positions 74 to 77 for a histidine. These amino acid positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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