ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter)

dbSNP: rs1553369812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571703 SCV000662335 pathogenic Hereditary cancer-predisposing syndrome 2017-02-07 criteria provided, single submitter clinical testing The c.2421_2422delTGinsCT pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from an in-frame deletion of TG and insertion of CT at nucleotide positions 2421 to 2422, leading to an immediate stop codon (p.E808*). 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 RCV001858108 SCV002171679 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-12-08 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: 479848). This premature translational stop signal has been observed in individual(s) with colorectal and endometrial cancer (PMID: 15520370). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Glu808*) 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).

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