ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn)

dbSNP: rs1553370893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000758595 SCV000887344 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH2 NM_000251.2:c.2754G>T has a 16.7% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.20 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the MSH2 locus. See Shirts et al 2018, PMID 29887214.
Ambry Genetics RCV002440584 SCV002749016 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-27 criteria provided, single submitter clinical testing The p.K918N variant (also known as c.2754G>T), located in coding exon 16 of the MSH2 gene, results from a G to T substitution at nucleotide position 2754. The lysine at codon 918 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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