ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3206del (p.Pro1069fs)

dbSNP: rs1060501677
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463020 SCV000547066 pathogenic Ataxia-telangiectasia syndrome 2023-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1069Leufs*2) 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: 407680). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000562752 SCV000660632 pathogenic Hereditary cancer-predisposing syndrome 2023-05-30 criteria provided, single submitter clinical testing The c.3206delC pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3206, causing a translational frameshift with a predicted alternate stop codon (p.P1069Lfs*2). 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.
GeneDx RCV000657343 SCV000779075 pathogenic not provided 2019-07-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 30420857)
Color Diagnostics, LLC DBA Color Health RCV000562752 SCV000910269 pathogenic Hereditary cancer-predisposing syndrome 2021-06-01 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 22 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000657343 SCV001249801 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470437 SCV004212162 likely pathogenic Familial cancer of breast 2022-11-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003470437 SCV004931895 pathogenic Familial cancer of breast 2024-01-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Natera, Inc. RCV000463020 SCV001452067 pathogenic Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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