ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)

dbSNP: rs63750318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076561 SCV000107591 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000569740 SCV000662286 pathogenic Hereditary cancer-predisposing syndrome 2019-07-31 criteria provided, single submitter clinical testing The p.E101* pathogenic mutation (also known as c.301G>T), located in coding exon 2 of the MSH2 gene, results from a G to T substitution at nucleotide position 301. This changes the amino acid from a glutamic acid to a stop codon within coding exon 2. This mutation has been reported in an individual diagnosed with an early-onset, MSI-H colorectal cancer demonstrating loss of MSH2 and MSH6 protein expression by IHC and whose family history includes duodenal and gastric cancers (Rahner N et al. Acta Oncol, 2007;46:763-9). 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.
Invitae RCV001389138 SCV001590388 pathogenic Hereditary nonpolyposis colorectal neoplasms 2016-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 101 (p.Glu101*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with early-onset colorectal cancer (PMID: 17653898).
Myriad Genetics, Inc. RCV003452932 SCV004186821 pathogenic Lynch syndrome 1 2023-07-26 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.

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