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NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) AND Aicardi-Goutieres syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2014
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:
RCV000114323.2

Allele description

NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)

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:
Microsatellite
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
HGVS:
  • NC_000003.12:g.48466861TG[5]
  • NG_009820.2:g.6032TG[5]
  • NG_033100.1:g.38993CA[5]
  • NG_041782.1:g.25152TG[5]
  • NM_001271022.2:c.*1307TG[5]
  • NM_001271023.2:c.*1307TG[5]
  • NM_007248.5:c.182_183dup
  • NM_032166.4:c.*1307TG[5]
  • NM_033629.6:c.212_213dupMANE SELECT
  • NM_130384.3:c.*1307TG[5]MANE SELECT
  • NP_009179.2:p.Ala62fs
  • NP_338599.1:p.Ala72fs
  • LRG_282t1:c.212_213dup
  • AAK07616.1:p.Ala72Trpfster16
  • AF319569.1:c.212_213dupTG
  • LRG_282:g.6032TG[5]
  • LRG_282p1:p.Ala72fs
  • NC_000003.11:g.48508260TG[5]
  • NM_033629.3:c.212_213dup
  • NR_153405.1:n.3515TG[5]
Protein change:
A62fs
Links:
dbSNP: rs74689946
NCBI 1000 Genomes Browser:
rs74689946
Molecular consequence:
  • NM_001271022.2:c.*1307TG[5] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1307TG[5] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1307TG[5] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1307TG[5] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.182_183dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033629.6:c.212_213dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_153405.1:n.3515TG[5] - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000147888GeneReviews
no assertion criteria provided
Pathogenic
(Mar 13, 2014) 		germlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000147888.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022