ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter)

dbSNP: rs1591758899
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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 RCV001024765 SCV001186844 pathogenic Hereditary cancer-predisposing syndrome 2019-12-19 criteria provided, single submitter clinical testing The c.5992_5993delGGinsTA pathogenic mutation (also known as p.G1998*), located in coding exon 39 of the ATM gene, results from an in-frame deletion of GG and insertion of TA at nucleotide positions 5992 to 5993. This changes the amino acid from a glycine to a stop codon within coding exon 39. 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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