ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)

dbSNP: rs1131691160
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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 RCV000494348 SCV000581460 pathogenic Hereditary cancer-predisposing syndrome 2016-05-13 criteria provided, single submitter clinical testing The p.K1289* pathogenic mutation (also known as c.3865A>T), located in coding exon 25 of the ATM gene, results from an A to T substitution at nucleotide position 3865. This changes the amino acid from a lysine to a stop codon within coding exon 25. 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.
Invitae RCV001224805 SCV001397027 pathogenic Ataxia-telangiectasia syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1289*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). ClinVar contains an entry for this variant (Variation ID: 429077). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004023292 SCV004931584 pathogenic Familial cancer of breast 2024-01-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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