ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.289del (p.Ile97fs)

dbSNP: rs878853497
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225848 SCV000282912 pathogenic Ataxia-telangiectasia syndrome 2022-11-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 236694). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile97Serfs*19) 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).
Ambry Genetics RCV000567201 SCV000667895 pathogenic Hereditary cancer-predisposing syndrome 2021-07-13 criteria provided, single submitter clinical testing The c.289delA pathogenic mutation, located in coding exon 3 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 289, causing a translational frameshift with a predicted alternate stop codon (p.I97Sfs*19). 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.
Sema4, Sema4 RCV000567201 SCV002532941 likely pathogenic Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter curation
Baylor Genetics RCV003469124 SCV004212176 pathogenic Familial cancer of breast 2022-11-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003469124 SCV004932953 pathogenic Familial cancer of breast 2024-01-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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