Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000051.4(ATM):c.1524del (p.Gly509fs)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000189158.8
Variation ID:
189158
Description:
1bp deletion
Help

NM_000051.4(ATM):c.1524del (p.Gly509fs)

Allele ID
186799
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108250988 (GRCh38) GRCh38 UCSC
11: 108121715 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.33158del
LRG_135t1:c.1524del LRG_135p1:p.Gly509fs
NM_000051.3:c.1524del NP_000042.3:p.Gly509fs frameshift
... more HGVS
Protein change
G509fs
Other names
-
Canonical SPDI
NC_000011.10:108250987:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274435
dbSNP: rs786204737
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Nov 11, 2020 RCV000169584.6
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 15, 2020 RCV000573650.2
Likely pathogenic 1 criteria provided, single submitter Feb 29, 2016 RCV000236634.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATM Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6418 10309

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 27, 2015)
criteria provided, single submitter
Method: literature only
Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221089.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Feb 29, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293432.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This deletion of one nucleotide in ATM is denoted c.1524delT at the cDNA level and p.Gly509GlufsX3 (G509EfsX3) at the protein level. The normal sequence, with … (more)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001349858.1
Submitted: (May 19, 2020)
Comment:
This variant deletes 1 nucleotide in exon 10 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Evidence details
Pathogenic
(Apr 30, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000665463.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.1524delT pathogenic mutation, located in coding exon 9 of the ATM gene, results from a deletion of one nucleotide at position 1524, causing a … (more)
Pathogenic
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001448433.1
Submitted: (Dec 02, 2020)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: ATM c.1524delT (p.Gly509GlufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000622267.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gly509Glufs*3) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. Arvai KJ Hereditary cancer in clinical practice 2019 PMID: 31341520
Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome. Bochtler T International journal of cancer 2019 PMID: 30963573
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy. Rizzolo P International journal of cancer 2019 PMID: 30613976
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Podralska MJ Molecular genetics & genomic medicine 2014 PMID: 25614872
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. Huang Y Neuromolecular medicine 2013 PMID: 23807571
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. Prodosmo A The Journal of clinical investigation 2013 PMID: 23454770
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Cavalieri S Annals of human genetics 2008 PMID: 17910737
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Cavalieri S Human mutation 2006 PMID: 16941484

Text-mined citations for rs786204737...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021