ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.581del (p.Ser194fs)

dbSNP: rs587780186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116027 SCV000149936 pathogenic Hereditary cancer-predisposing syndrome 2014-01-23 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.581delG at the cDNA level and p.Ser194ThrfsX11 (S194TfsX11) at the protein level. The normal sequence, with the base that is deleted in brackets, is CTAA[delG]CAGA. The deletion causes a frameshift, which changes a Serine to a Threonine at codon 194 in exon 4, and creates a premature stop codon at position 11 of the new reading frame. This mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, it is considered pathogenic. The variant is found in BR-OV-HEREDIC panel(s).

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