ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.459del (p.Ala154fs)

dbSNP: rs2104023773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003449989 SCV004187037 pathogenic Lynch syndrome 1 2023-07-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354085 SCV001548613 pathogenic Endometrial carcinoma no assertion criteria provided clinical testing The MSH2 p.Ala154GlnfsX20 variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, UMD-LSDB, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.459del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 154 and leads to a premature stop codon 20 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch Syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357715 SCV001553266 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MSH2 p.Ala154GlnfsX20 variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, UMD-LSDB, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.459del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 154 and leads to a premature stop codon 20 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch Syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358629 SCV001554420 pathogenic Lynch syndrome no assertion criteria provided clinical testing The MSH2 p.Ala154GlnfsX20 variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, UMD-LSDB, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.459del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 154 and leads to a premature stop codon 20 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch Syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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