ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)

dbSNP: rs587779097
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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) RCV000076189 SCV000107206 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV002228182 SCV000548183 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-01-13 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: 90693). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln510*) 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).
Ambry Genetics RCV002390227 SCV002705480 pathogenic Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter clinical testing The p.Q510* pathogenic mutation (also known as c.1528C>T), located in coding exon 10 of the MSH2 gene, results from a C to T substitution at nucleotide position 1528. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This mutation has been reported in an Asian colorectal cancer patient (Xu Y et al. BMC Cancer, 2021 Jan;21:45). 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. RCV003452839 SCV004186917 pathogenic Lynch syndrome 1 2023-08-02 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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