ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)

dbSNP: rs1162534390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628047 SCV000748935 pathogenic Ataxia-telangiectasia syndrome 2023-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2742Hisfs*4) 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 present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 524334). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001027302 SCV001189837 pathogenic Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing The c.8224_8225delAA pathogenic mutation, located in coding exon 55 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 8224 to 8225, causing a translational frameshift with a predicted alternate stop codon (p.N2742Hfs*4). 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.
Baylor Genetics RCV003465373 SCV004212256 likely pathogenic Familial cancer of breast 2022-06-18 criteria provided, single submitter clinical testing

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