ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6839del (p.Gln2280fs)

gnomAD frequency: 0.00001  dbSNP: rs1407907917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547117 SCV000622691 pathogenic Ataxia-telangiectasia syndrome 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2280Argfs*30) 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 variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 453644). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002367751 SCV002664762 pathogenic Hereditary cancer-predisposing syndrome 2021-08-02 criteria provided, single submitter clinical testing The c.6839delA pathogenic mutation, located in coding exon 46 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 6839, causing a translational frameshift with a predicted alternate stop codon (p.Q2280Rfs*30). This alteration was previously reported in at least one individual from a cohort of 278 BRCA1/2-negative individuals with early-onset breast cancer via multiplex panel testing of 22 cancer susceptibility genes (Maxwell KN et al. Genet Med, 2015 Aug;17:630-8). In addition to the clinical data presented in the literature, 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.
Myriad Genetics, Inc. RCV004023653 SCV004930664 pathogenic Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Fulgent Genetics, Fulgent Genetics RCV005049589 SCV005678781 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-02-28 criteria provided, single submitter clinical testing

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