ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)

dbSNP: rs886039631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255399 SCV000322556 likely pathogenic not provided 2016-04-19 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.1170C>A at the cDNA level and p.Tyr390Ter (Y390X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Ambry Genetics RCV002328750 SCV002629558 pathogenic Hereditary cancer-predisposing syndrome 2022-10-24 criteria provided, single submitter clinical testing The p.Y390* pathogenic mutation (also known as c.1170C>A), located in coding exon 10 of the CHEK2 gene, results from a C to A substitution at nucleotide position 1170. This changes the amino acid from a tyrosine to a stop codon within coding exon 10. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Myriad Genetics, Inc. RCV003335295 SCV004045112 pathogenic Familial cancer of breast 2023-06-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003335295 SCV004217603 pathogenic Familial cancer of breast 2023-08-05 criteria provided, single submitter clinical testing

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