ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7705del (p.Asp2569fs)

dbSNP: rs2136522117
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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 RCV001385546 SCV001585436 pathogenic Ataxia-telangiectasia syndrome 2023-02-28 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26976419). This sequence change creates a premature translational stop signal (p.Asp2569Metfs*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 not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1072740). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002404900 SCV002670529 pathogenic Hereditary cancer-predisposing syndrome 2020-07-31 criteria provided, single submitter clinical testing The c.7705delG pathogenic mutation, located in coding exon 51 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 7705, causing a translational frameshift with a predicted alternate stop codon (p.D2569Mfs*4). This alteration has been reported in a cohort of 488 patients with stages I to III breast cancer who were tested with a 25-gene panel test (Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). 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. RCV004037674 SCV004932415 pathogenic Familial cancer of breast 2024-01-31 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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