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NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001091722.20

Allele description [Variation Report for NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)]

NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)

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.3019G>A (p.Gly1007Arg)
HGVS:
  • NC_000001.11:g.154588125C>T
  • NG_011844.2:g.48436G>A
  • NM_001025107.3:c.2134G>A
  • NM_001111.4:c.[3019G>A]
  • NM_001111.5:c.3019G>AMANE SELECT
  • NM_001193495.2:c.2134G>A
  • NM_001365045.1:c.3046G>A
  • NM_001365046.1:c.2134G>A
  • NM_001365047.1:c.2134G>A
  • NM_001365048.1:c.2134G>A
  • NM_001365049.1:c.2056G>A
  • NM_015840.4:c.2941G>A
  • NM_015841.4:c.2884G>A
  • NP_001020278.1:p.Gly712Arg
  • NP_001102.3:p.Gly1007Arg
  • NP_001180424.1:p.Gly712Arg
  • NP_001351974.1:p.Gly1016Arg
  • NP_001351975.1:p.Gly712Arg
  • NP_001351976.1:p.Gly712Arg
  • NP_001351977.1:p.Gly712Arg
  • NP_001351978.1:p.Gly686Arg
  • NP_056655.3:p.Gly981Arg
  • NP_056656.3:p.Gly962Arg
  • LRG_1212t1:c.3019G>A
  • LRG_1212:g.48436G>A
  • LRG_1212p1:p.Gly1007Arg
  • NC_000001.10:g.154560601C>T
  • NG_011844.1:g.44837G>A
  • NM_001111.4:c.3019G>A
  • NM_001111.4:c.[3019G>A]
  • NM_001111.5:c.3019G>A
  • NP_001102.2:p.Gly1007Arg
Protein change:
G1007R; GLY1007ARG
Links:
OMIM: 146920.0011; dbSNP: rs398122822
NCBI 1000 Genomes Browser:
rs398122822
Molecular consequence:
  • NM_001025107.3:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001111.5:c.3019G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193495.2:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365045.1:c.3046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365046.1:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365047.1:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365048.1:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365049.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015840.4:c.2941G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015841.4:c.2884G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001247915CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Feb 1, 2024) 		germlineclinical testing

Citation Link,

SCV001805453GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 5, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001247915.21

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

ADAR: PS2, PM2, PS4:Moderate, PP3, PS3:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV001805453.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in published literature in multiple affected individuals from a few unrelated families with dyschromatosis symmetrica hereditaria and neurodegeneration with dystonia and intracranial calcification. Also present in multiple unaffected relatives in these families, suggesting G1007R may exhibit incomplete penetrance (Suzuki et al., 2005; Kondo et al., 2008); Published functional studies suggest that G1007R may confer a dominant-negative effect by binding more tightly to RNA and acting as competitive inhibitor to the wild-type protein (Rice et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29775506, 24262145, 25243380, 19017046, 16817193, 27959697, 15955093, 23001123, 29691679, 31737037, 34426522, 32801363, 33307271, 27535533)

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

Last Updated: May 12, 2024