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NM_000051.4(ATM):c.1695A>G (p.Glu565=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 24, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000407723.11
Variation ID:
407723
Description:
single nucleotide variant
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NM_000051.4(ATM):c.1695A>G (p.Glu565=)

Allele ID
397819
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108251924 (GRCh38) GRCh38 UCSC
11: 108122651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.34093A>G
LRG_135t1:c.1695A>G LRG_135p1:p.Glu565=
NC_000011.10:g.108251924A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108251923:A:G
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) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA6264858
dbSNP: rs780932013
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 6, 2019 RCV000472970.4
Uncertain significance 1 criteria provided, single submitter Nov 30, 2020 RCV000483767.3
Likely benign 1 criteria provided, single submitter Aug 21, 2019 RCV000779760.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 11, 2018 RCV000563909.4
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 24, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000660618.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Uncertain significance
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000547136.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change affects codon 565 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Uncertain significance
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000567907.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not … (more)
Uncertain significance
(Sep 11, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000681992.2
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916536.2
Submitted: (Sep 24, 2019)
Evidence details

Functional evidence

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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

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs780932013...

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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