ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1787dup (p.Asn596fs)

dbSNP: rs587779111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076287 SCV000107309 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491048 SCV000580425 pathogenic Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The c.1787dupA pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a duplication of A at nucleotide position 1787, causing a translational frameshift with a predicted alternate stop codon (p.N596Kfs*2). This mutation was described in a patient with six primary cancers, beginning with cancer of the ascending colon at 37 years (Okamura S et al. J Hum Genet. 1998;43(2):143-5). In addition to the clinical data presented in the literature, 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003137612 SCV003807683 pathogenic Lynch syndrome 1 2022-10-13 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated

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