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NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) AND Aicardi-Goutieres syndrome 6

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 27, 2013
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:
RCV000032657.31

Allele description [Variation Report for NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)]

NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)

Genes:
LOC126805874:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 [Gene]
ADAR:adenosine deaminase RNA specific [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)
HGVS:
  • NC_000001.11:g.154589810A>G
  • NG_011844.2:g.46751T>C
  • NM_001025107.3:c.1730T>C
  • NM_001111.5:c.2615T>CMANE SELECT
  • NM_001193495.2:c.1730T>C
  • NM_001365045.1:c.2642T>C
  • NM_001365046.1:c.1730T>C
  • NM_001365047.1:c.1730T>C
  • NM_001365048.1:c.1730T>C
  • NM_001365049.1:c.1652T>C
  • NM_015840.4:c.2537T>C
  • NM_015841.4:c.2480T>C
  • NP_001020278.1:p.Ile577Thr
  • NP_001102.3:p.Ile872Thr
  • NP_001180424.1:p.Ile577Thr
  • NP_001351974.1:p.Ile881Thr
  • NP_001351975.1:p.Ile577Thr
  • NP_001351976.1:p.Ile577Thr
  • NP_001351977.1:p.Ile577Thr
  • NP_001351978.1:p.Ile551Thr
  • NP_056655.3:p.Ile846Thr
  • NP_056656.3:p.Ile827Thr
  • LRG_1212t1:c.2615T>C
  • LRG_1212:g.46751T>C
  • LRG_1212p1:p.Ile872Thr
  • NC_000001.10:g.154562286A>G
  • NG_011844.1:g.43152T>C
  • NM_001111.4:c.2615T>C
  • P55265:p.Ile872Thr
Protein change:
I551T; ILE872THR
Links:
UniProtKB: P55265#VAR_069537; OMIM: 146920.0014; dbSNP: rs398122897
NCBI 1000 Genomes Browser:
rs398122897
Molecular consequence:
  • NM_001025107.3:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001111.5:c.2615T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193495.2:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365045.1:c.2642T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365046.1:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365047.1:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365048.1:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365049.1:c.1652T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015840.4:c.2537T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015841.4:c.2480T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056420OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2012) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000244025ClinVar Staff, National Center for Biotechnology Information (NCBI)
no assertion criteria provided
Likely pathogenic
(Jun 27, 2013) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, et al.

Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.

PubMed [citation]
PMID:
23001123
PMCID:
PMC4154508

Details of each submission

From OMIM, SCV000056420.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient of Caucasian British origin with Aicardi-Goutieres syndrome-6 (AGS6; 615010), Rice et al. (2012) identified compound heterozygosity for the pro193-to-ala (P193A; 146920.0007) mutation in the ADAR gene and a T-to-C transition at nucleotide 2615 in exon 8, resulting in an ile-to-thr substitution at codon 872 (I872T; 146920.0014). This mutation involving an evolutionarily conserved residue was not identified in 12,000 control samples.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000244025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024