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NM_000051.3(ATM):c.8419-19A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000140769.5
Variation ID:
140769
Description:
single nucleotide variant
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NM_000051.3(ATM):c.8419-19A>G

Allele ID
150483
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108345724 (GRCh38) GRCh38 UCSC
11: 108216451 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108345724A>G
NC_000011.9:g.108216451A>G
NM_001351834.2:c.8419-19A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108345723:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00755
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00872
Trans-Omics for Precision Medicine (TOPMed) 0.00846
1000 Genomes Project 0.00699
Exome Aggregation Consortium (ExAC) 0.00238
The Genome Aggregation Database (gnomAD), exomes 0.00189
Links
ClinGen: CA163523
dbSNP: rs12279930
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Feb 14, 2017 RCV000128896.5
Benign 2 criteria provided, multiple submitters, no conflicts Dec 2, 2020 RCV000672211.2
Benign 1 criteria provided, single submitter Jun 21, 2017 RCV000679149.1
Benign 1 criteria provided, single submitter Apr 27, 2020 RCV001286956.1
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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
6379 10227
C11orf65 - - - GRCh38
GRCh37
3 3848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 14, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000576464.1
Submitted: (Feb 16, 2017)
Evidence details
Benign
(May 18, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000682485.1
Submitted: (Oct 26, 2017)
Evidence details
Benign
(Jan 19, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000797294.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Jun 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000805627.1
Submitted: (Jan 29, 2018)
Evidence details
Benign
(Nov 17, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000172756.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Apr 27, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473589.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV001724761.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 01, 2015)
no assertion criteria provided
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000264874.1
Submitted: (Mar 07, 2016)
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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Title Author Journal Year Link
Molecular defects in Moroccan patients with ataxia-telangiectasia. Jeddane L Neuromolecular medicine 2013 PMID: 23322442

Text-mined citations for rs12279930...

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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 Jun 23, 2021