ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.282del (p.Arg95fs) (rs1064795959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486640 SCV000572262 likely pathogenic not provided 2016-11-08 criteria provided, single submitter clinical testing This deletion of one nucleotide in CHEK2 is denoted c.282delT at the cDNA level and p.Arg95AspfsX15 (R95DfsX15) at the protein level. The normal sequence, with the base that is deleted in braces, is GGGC[T]CGAT. The deletion causes a frameshift which changes an Arginine to an Aspartic Acid at codon 95, and creates a premature stop codon at position 15 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.
Ambry Genetics RCV000568231 SCV000676008 pathogenic Hereditary cancer-predisposing syndrome 2017-01-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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