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.4437-1G>C

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 28, 2021)
Last evaluated:
Jun 15, 2021
Accession:
VCV000231843.9
Variation ID:
231843
Description:
single nucleotide variant
Help

NM_000051.4(ATM):c.4437-1G>C

Allele ID
234161
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108292618 (GRCh38) GRCh38 UCSC
11: 108163345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.108163345G>C
LRG_135t1:c.4437-1G>C
LRG_135:g.74787G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108292617:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA6265475
dbSNP: rs759520465
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 18, 2020 RCV000216400.3
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 12, 2020 RCV000530451.4
Pathogenic 1 criteria provided, single submitter Jun 15, 2021 RCV000486776.3
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
6424 10317

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275817.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.4437-1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide upstream from coding exon 29 of the ATM gene. This alteration … (more)
Likely pathogenic
(Oct 12, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000622501.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects an acceptor splice site in intron 29 of the ATM gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Jun 15, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568323.4
Submitted: (Sep 28, 2021)
Evidence details
Comment:
Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed … (more)
Likely pathogenic
(Mar 09, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000798327.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Nov 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001340523.1
Submitted: (May 19, 2020)
Comment:
This variant causes a G>C nucleotide substitution at the -1 position of intron 29 of the ATM gene. Splice site prediction tools predict that this … (more)
Evidence details

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
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
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Mitui M Human mutation 2003 PMID: 12815592

Text-mined citations for rs759520465...

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 Nov 27, 2021