ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1386+1G>C

dbSNP: rs267607957
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076138 SCV000107153 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Ambry Genetics RCV002390222 SCV002699886 likely pathogenic Hereditary cancer-predisposing syndrome 2022-06-02 criteria provided, single submitter clinical testing The c.1386+1G>C intronic variant results from a G to C substitution one nucleotide after coding exon 8 of the MSH2 gene. This alteration was identified in a Belgian family that met Amsterdam Criteria (Spaepen M et al. Fam Cancer, 2006;5:179-89). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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.