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NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 4, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002281915.8

Allele description [Variation Report for NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)]

NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)

Genes:
ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
HGVS:
  • NC_000003.12:g.48467452A>G
  • NG_009820.2:g.6623A>G
  • NG_033100.1:g.38409T>C
  • NG_033100.2:g.42358T>C
  • NG_041782.1:g.25743A>G
  • NG_099340.1:g.513A>G
  • NM_001271022.2:c.*1898A>G
  • NM_001271023.2:c.*1898A>G
  • NM_007248.5:c.767A>G
  • NM_032166.4:c.*1898A>G
  • NM_033629.6:c.797A>GMANE SELECT
  • NM_130384.3:c.*1898A>GMANE SELECT
  • NP_009179.2:p.Glu256Gly
  • NP_338599.1:p.Glu266Gly
  • NP_338599.1:p.Glu266Gly
  • NP_338599.1:p.Glu266Gly
  • LRG_282t1:c.797A>G
  • LRG_282:g.6623A>G
  • LRG_282p1:p.Glu266Gly
  • NC_000003.11:g.48508851A>G
  • NM_033629.2:c.797A>G
  • NM_033629.3:c.797A>G
  • NM_033629.4:c.797A>G
  • NM_130384.3:c.*1898A>G
  • NR_153405.1:n.4106A>G
  • Q9NSU2:p.Glu321Gly
Protein change:
E256G
Links:
UniProtKB: Q9NSU2#VAR_037953; dbSNP: rs55999987
NCBI 1000 Genomes Browser:
rs55999987
Molecular consequence:
  • NM_001271022.2:c.*1898A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1898A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1898A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1898A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033629.6:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_153405.1:n.4106A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aicardi-Goutieres syndrome 1
Synonyms:
CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; PSEUDOTOXOPLASMOSIS SYNDROME
Identifiers:
MONDO: MONDO:0009165; MedGen: C0796126; Orphanet: 51; OMIM: 225750
Name:
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS)
Synonyms:
Vasculopathy, retinal, with cerebral leukodystrophy; Cerebroretinal vasculopathy, hereditary; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
Identifiers:
MONDO: MONDO:0008641; MedGen: C1860518; Orphanet: 3421; Orphanet: 63261; Orphanet: 71291; OMIM: 192315

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002571720Institute of Neurology, Charite University of Medicine
no assertion criteria provided
Likely benign
(Jun 4, 2022) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Institute of Neurology, Charite University of Medicine, SCV002571720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024