ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5982A>G (p.Lys1994=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002356153 SCV002657091 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-09 criteria provided, single submitter clinical testing The c.5982A>G variant (also known as p.K1994K) is located in coding exon 39 of the ATM gene. This variant results from an A to G substitution at nucleotide position 5982. This nucleotide substitution does not change the lysine at codon 1994. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776192 SCV004682605 likely benign Ataxia-telangiectasia syndrome 2023-03-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591929 SCV005083813 benign Familial cancer of breast 2024-05-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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