ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter)

dbSNP: rs1554293991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569474 SCV000670775 pathogenic Hereditary cancer-predisposing syndrome 2018-01-24 criteria provided, single submitter clinical testing The p.K766* pathogenic mutation (also known as c.2296A>T), located in coding exon 14 of the PMS2 gene, results from an A to T substitution at nucleotide position 2296. This changes the amino acid from a lysine to a stop codon within coding exon 14. 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.

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