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NM_033629.6(TREX1):c.531= (p.Tyr177=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000096241.8
Variation ID:
96241
Description:
single nucleotide variant
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NM_033629.6(TREX1):c.531= (p.Tyr177=)

Allele ID
102135
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
3p21.31
Genomic location
3: 48467186 (GRCh38) GRCh38 UCSC
3: 48508585 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48508585C>T
NC_000003.12:g.48467186=
NG_009820.2:g.6357=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48467185:T:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.36833
Links
ClinGen: CA149385
dbSNP: rs11797
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 7 criteria provided, multiple submitters, no conflicts Mar 29, 2016 RCV000082324.11
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000341237.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000405847.2
Benign 1 criteria provided, single submitter May 7, 2018 RCV000713867.2
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV001511091.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATRIP - - GRCh38
GRCh37
1 238
ATRIP-TREX1 - - - GRCh38 - 225
TREX1 - - GRCh38
GRCh37
2 197

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000315232.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 16, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000114287.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Aicardi-Goutieres Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000445032.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Retinal Vasculopathy with Cerebral Leukodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000445031.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Mar 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000540583.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Benign
(Jul 08, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514966.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(May 07, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844506.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi Goutieres syndrome 1
Chilblain lupus 1
Allele origin: germline
Invitae
Accession: SCV001718276.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740540.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953106.1
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974126.1
Submitted: (Sep 21, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TREX1 - - - -

Text-mined citations for rs11797...

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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 07, 2021