ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.367-28A>G

dbSNP: rs748645813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355383 SCV001550256 likely benign Carcinoma of colon no assertion criteria provided clinical testing The MSH2 c.367-28A>G variant was not identified in the literature nor was it identified in dbSNP, the 1000 Genomes Project, the NHLBI Exome Sequencing Project, GeneInsight COGR, ClinVar, Clinvitae, COSMIC, MutDB, UMD, InSiGHT Colon Cancer Gene Variant Database (LOVD), the Zhejiang Colon Cancer Database (LOVD), the ‚ Mismatch Repair Genes Variant Database‚Äù or the ‚ MMR Gene Unclassified Variants Database‚Äù. The variant was identified in the The Exome Aggregation Consortium database (August 8th 2016) in 1 of 117486 chromosomes (freq. 000009) specifically in the European (Non-Finnish) population in 1 of 64520 chromosomes (freq. 0.00002), but was not seen in African, East Asian, Finiish, Latino, Other or South Asian populations. The c.367-28A>G variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In addition the variant was identified with a co-occurring pathogenic MSH2 variant (c.1786_1788delAAT, p.Asn596del), increasing the likelihood that the c.367-28A>G variant does not have clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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