Submissions for variant NM_000251.3(MSH2):c.2529_2530del (p.Cys843_Ala844insTer)

dbSNP: rs63749975

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076496	SCV000107525	pathogenic	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Coding sequence variation introducing premature termination codon
Ambry Genetics	RCV002453387	SCV002738760	pathogenic	Hereditary cancer-predisposing syndrome	2022-08-05	criteria provided, single submitter	clinical testing	The c.2529_2530delTG pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from a deletion of two nucleotides at nucleotide positions 2529 to 2530, causing a translational frameshift with a predicted alternate stop codon (p.A844*). This variant has been reported in a Latvian family meeting Amsterdam criteria without age limitation (Irmejs A et al. Anticancer Res.;27:653-8). 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.	RCV003452917	SCV004188009	pathogenic	Lynch syndrome 1	2023-08-09	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.