ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419695 SCV002717987 pathogenic Hereditary cancer-predisposing syndrome 2018-12-17 criteria provided, single submitter clinical testing The p.S676* pathogenic mutation (also known as c.2027C>A), located in coding exon 13 of the MSH2 gene, results from a C to A substitution at nucleotide position 2027. This changes the amino acid from a serine to a stop codon within coding exon 13. This mutation was identified in one individual with colorectal cancer undergoing multigene panel testing (Roberts ME et al. Genet. Med. 2018 10;20:1167-1174). 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.
Myriad Genetics, Inc. RCV003454319 SCV004188126 pathogenic Lynch syndrome 1 2023-08-07 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.
deCODE genetics, Amgen RCV003454319 SCV004022226 likely pathogenic Lynch syndrome 1 2023-07-21 no assertion criteria provided research The variant NM_000251.3:c.2027C>A (chr2:47476388) in MSH2 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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