ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.689del (p.Asn230fs)

dbSNP: rs1057518965
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415022 SCV000493031 pathogenic Cerebellar ataxia; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia 2014-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798055 SCV000937650 pathogenic Ataxia-telangiectasia syndrome 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn230Ilefs*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). 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: 374194). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001025773 SCV001188025 pathogenic Hereditary cancer-predisposing syndrome 2023-09-06 criteria provided, single submitter clinical testing The c.689delA pathogenic mutation, located in coding exon 6 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 689, causing a translational frameshift with a predicted alternate stop codon (p.N230Ifs*4). This mutation, designated 687delA, was identified in an Austrian family with three or more affected individuals, including two diagnosed with breast cancer before age 50 (Thorstenson YR et al. Cancer Res. 2003 Jun;63:3325-33). 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.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310113 SCV001499654 pathogenic Familial cancer of breast 2020-04-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001025773 SCV002538561 likely pathogenic Hereditary cancer-predisposing syndrome 2021-11-04 criteria provided, single submitter curation
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001310113 SCV002762780 pathogenic Familial cancer of breast 2022-12-09 criteria provided, single submitter research PVS1, PM2_SUP, PM3_SUP
Myriad Genetics, Inc. RCV001310113 SCV004931900 pathogenic Familial cancer of breast 2024-01-09 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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