ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296_Ser297delinsTyrPhePheSerIleTer)

dbSNP: rs1573451662
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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 RCV001018431 SCV001179668 pathogenic Hereditary cancer-predisposing syndrome 2018-08-16 criteria provided, single submitter clinical testing The c.887_891delTCAGCins36 variant, located in coding exon 5 of the MSH2 gene, results from the deletion of 5 nucleotides and insertion of 36 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.F296Yfs*6). 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. RCV003455100 SCV004187828 pathogenic Lynch syndrome 1 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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