ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) (rs863225395)

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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 RCV000491337 SCV000580486 pathogenic Hereditary cancer-predisposing syndrome 2016-03-18 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. <br />
Invitae RCV000800051 SCV000939749 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-10-10 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Lynch syndrome (PMID: 24969397, 25213213). ClinVar contains an entry for this variant (Variation ID: 218045). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000202080 SCV000257176 likely pathogenic not provided no assertion criteria provided research

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