ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.141_154del (p.Glu48fs)

dbSNP: rs863224481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199618 SCV000253801 pathogenic Lynch syndrome 2015-07-08 criteria provided, single submitter clinical testing This sequence change deletes 14 nucleotides from exon 1 of the MSH2 mRNA (c.141_154delCGAGGACGCGCTGC), causing a frameshift at codon 48. This creates a premature translational stop signal (p.Glu48Glyfs*29) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001383570 SCV001582749 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-09-15 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: 216052). 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.Glu48Glyfs*29) 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 RCV002390531 SCV002701749 pathogenic Hereditary cancer-predisposing syndrome 2022-09-09 criteria provided, single submitter clinical testing The c.141_154delCGAGGACGCGCTGC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a deletion of 14 nucleotides at nucleotide positions 141 to 154, causing a translational frameshift with a predicted alternate stop codon (p.E48Gfs*29). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.