ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs)

dbSNP: rs1601824130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022847 SCV001184629 pathogenic Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing The c.465_468delTTAC pathogenic mutation, located in coding exon 3 of the CHEK2 gene, results from a deletion of 4 nucleotides at nucleotide positions 465 to 468, causing a translational frameshift with a predicted alternate stop codon (p.Y156Lfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003467668 SCV004217596 likely pathogenic Familial cancer of breast 2023-08-18 criteria provided, single submitter clinical testing

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