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_000051.3(ATM):c.6338C>G (p.Thr2113Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 3, 2020
Accession:
VCV000233776.9
Variation ID:
233776
Description:
single nucleotide variant
Help

NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser)

Allele ID
234263
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108317512 (GRCh38) GRCh38 UCSC
11: 108188239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108317512C>G
NC_000011.9:g.108188239C>G
NM_000051.3:c.6338C>G NP_000042.3:p.Thr2113Ser missense
... more HGVS
Protein change
T2113S
Other names
-
Canonical SPDI
NC_000011.10:108317511:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
ClinGen: CA6265906
dbSNP: rs573290117
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Sep 3, 2020 RCV000533728.6
Uncertain significance 1 criteria provided, single submitter Feb 24, 2020 RCV001174836.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 12, 2019 RCV000221486.4
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
6379 10227
C11orf65 - - - GRCh38
GRCh37
3 3848

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903052.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Feb 24, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338210.1
Submitted: (Apr 29, 2020)
Evidence details
Comment:
Variant summary: ATM c.6338C>G (p.Thr2113Ser) results in a conservative amino acid change located in the PIK-related kinase, FAT domain (IPR003151) of the encoded protein sequence. … (more)
Uncertain significance
(Sep 12, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000278223.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.T2113S variant (also known as c.6338C>G), located in coding exon 42 of the ATM gene, results from a C to G substitution at nucleotide … (more)
Uncertain significance
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000622656.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with serine at codon 2113 of the ATM protein (p.Thr2113Ser). The threonine residue is weakly conserved and there is a … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Ataxia-telangiectasia
Allele origin: germline
Natera, Inc.
Accession: SCV001457414.1
Submitted: (Dec 28, 2020)
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
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 rs573290117...

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 Aug 27, 2021