ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)

dbSNP: rs63751246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076730 SCV000107768 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000491146 SCV000580474 pathogenic Hereditary cancer-predisposing syndrome 2015-12-14 criteria provided, single submitter clinical testing The p.E28* pathogenic mutation (also known as c.82G>T), located in coding exon 1 of the MSH2 gene, results from a G to T substitution at nucleotide position 82. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This truncating mutation was identified once in a cohort of 1,721 German families suspected of hereditary nonpolyposis colorectal cancer and in another report, one proband had a colorectal tumor that demonstrated high microsatellite instability with loss of MSH2 staining on immunohistochemistry (Mangold E et al, Int. J. Cancer 2005 Sep; 116(5):692-702; Mangold E et al. J Pathol, 2005 Dec;207:385-95). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003452968 SCV004187798 pathogenic Lynch syndrome 1 2023-07-26 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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