ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)

dbSNP: rs863225395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491337 SCV000580486 pathogenic Hereditary cancer-predisposing syndrome 2024-01-29 criteria provided, single submitter clinical testing The p.S767* pathogenic mutation (also known as c.2300C>G), located in coding exon 14 of the MSH2 gene, results from a C to G substitution at nucleotide position 2300. This changes the amino acid from a serine to a stop codon within coding exon 14. This alteration has been reported in a patient with the Muir-Torre syndrome variant of Lynch syndrome who was diagnosed with right-sided colon cancer at age 48 and a sebaceous adenoma of the head at age 52 with a family history of colon cancer diagnosed in two family members at ages 46 and 44 years (Ponti G et al. Fam. Cancer. 2014 Dec; 13(4):553-61). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000800051 SCV000939749 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 218045). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 24969397, 25213213). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser767*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816).
Myriad Genetics, Inc. RCV003454522 SCV004186924 pathogenic Lynch syndrome 1 2023-08-08 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000202080 SCV000257176 likely pathogenic not provided no assertion criteria provided research

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