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NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) AND Aicardi-Goutieres syndrome 6

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542546.2

Allele description [Variation Report for NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)]

NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)

Gene:
ADAR:adenosine deaminase RNA specific [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)
HGVS:
  • NC_000001.11:g.154585814_154585815del
  • NG_011844.2:g.50747_50748del
  • NM_001025107.3:c.2369_2370del
  • NM_001111.5:c.3254_3255delMANE SELECT
  • NM_001193495.2:c.2369_2370del
  • NM_001365045.1:c.3281_3282del
  • NM_001365046.1:c.2369_2370del
  • NM_001365047.1:c.2369_2370del
  • NM_001365048.1:c.2369_2370del
  • NM_001365049.1:c.2291_2292del
  • NM_015840.4:c.3176_3177del
  • NM_015841.4:c.3119_3120del
  • NP_001020278.1:p.Thr790fs
  • NP_001102.3:p.Thr1085fs
  • NP_001180424.1:p.Thr790fs
  • NP_001351974.1:p.Thr1094fs
  • NP_001351975.1:p.Thr790fs
  • NP_001351976.1:p.Thr790fs
  • NP_001351977.1:p.Thr790fs
  • NP_001351978.1:p.Thr764fs
  • NP_056655.3:p.Thr1059fs
  • NP_056656.3:p.Thr1040fs
  • LRG_1212t1:c.3254_3255del
  • LRG_1212:g.50747_50748del
  • LRG_1212p1:p.Thr1085fs
  • NC_000001.10:g.154558289_154558290del
  • NC_000001.10:g.154558290_154558291del
Protein change:
T1040fs
Links:
dbSNP: rs2101563488
NCBI 1000 Genomes Browser:
rs2101563488
Molecular consequence:
  • NM_001025107.3:c.2369_2370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001111.5:c.3254_3255del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001193495.2:c.2369_2370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365045.1:c.3281_3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365046.1:c.2369_2370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365047.1:c.2369_2370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365048.1:c.2369_2370del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365049.1:c.2291_2292del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015840.4:c.3176_3177del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015841.4:c.3119_3120del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Aicardi-Goutieres syndrome 6 (AGS6)
Identifiers:
MONDO: MONDO:0014007; MedGen: C3539013; Orphanet: 51; OMIM: 615010

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001759984Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001759984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023