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NM_000051.4(ATM):c.2295del (p.Asn765fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 16, 2020
Accession:
VCV000230468.3
Variation ID:
230468
Description:
1bp deletion
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NM_000051.4(ATM):c.2295del (p.Asn765fs)

Allele ID
234028
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108257525 (GRCh38) GRCh38 UCSC
11: 108128252 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000051.3:c.2295delT frameshift
NC_000011.10:g.108257525del
NC_000011.9:g.108128252del
... more HGVS
Protein change
N765fs
Other names
-
Canonical SPDI
NC_000011.10:108257524:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs876658583
ClinGen: CA10579048
VarSome
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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 Dec 6, 2017 RCV000627988.1
Pathogenic 1 criteria provided, single submitter Sep 16, 2020 RCV000222588.2
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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
6418 10309

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274027.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.2295delT pathogenic mutation, located in coding exon 14 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 2295, causing … (more)
Pathogenic
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000748875.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Asn765Lysfs*12) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Mar 10, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000790312.1
Submitted: (Jul 10, 2018)
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 rs876658583...

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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 Oct 24, 2021