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NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) AND Aicardi-Goutieres syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000114332.3

Allele description [Variation Report for NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla)]

NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla)

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:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla)
HGVS:
  • NC_000003.12:g.48467264_48467317dup
  • NG_009820.2:g.6435_6488dup
  • NG_033100.1:g.38546_38599dup
  • NG_033100.2:g.42495_42548dup
  • NG_041782.1:g.25555_25608dup
  • NG_099340.1:g.325_378dup
  • NM_001271022.2:c.*1710_*1763dup
  • NM_001271023.2:c.*1710_*1763dup
  • NM_007248.5:c.579_632dup
  • NM_032166.4:c.*1710_*1763dup
  • NM_033629.6:c.609_662dupMANE SELECT
  • NM_130384.3:c.*1710_*1763dupMANE SELECT
  • NP_009179.2:p.Ala211_His212insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla
  • NP_338599.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla
  • NP_338599.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla
  • LRG_282t1:c.609_662dup
  • AAK07616.1:p.Leu204_Ala221dup
  • AF319569.1:c.609_662dup
  • LRG_282:g.6435_6488dup
  • LRG_282p1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla
  • NC_000003.11:g.48508663_48508716dup
  • NM_033629.4:c.609_662dup
  • NR_153405.1:n.3918_3971dup
Links:
dbSNP: rs78379807
NCBI 1000 Genomes Browser:
rs78379807
Molecular consequence:
  • NM_001271022.2:c.*1710_*1763dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1710_*1763dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1710_*1763dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1710_*1763dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.579_632dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_033629.6:c.609_662dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_153405.1:n.3918_3971dup - 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
SCV000147901GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000147901.3

#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: Sep 1, 2024