ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.606del (p.Phe202fs) (rs886039609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775229 SCV000909481 pathogenic Hereditary cancer-predisposing syndrome 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000254973 SCV000322515 likely pathogenic not provided 2015-12-18 criteria provided, single submitter clinical testing This deletion of one nucleotide in CHEK2 is denoted c.606delT at the cDNA level and p.Phe202LeufsX3 (F202LfsX3) at the protein level. The normal sequence, with the base that is deleted in braces, is CTTTTT[T]GATC. The deletion causes a frameshift, which changes a Phenylalanine to a Leucine at codon 202, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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