NM_001111.5(ADAR):c.2597G>A (p.Arg866His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 2, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001922628.6

Allele description [Variation Report for NM_001111.5(ADAR):c.2597G>A (p.Arg866His)]

NM_001111.5(ADAR):c.2597G>A (p.Arg866His)

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.2597G>A (p.Arg866His)

HGVS:

NC_000001.11:g.154589828C>T
NG_011844.2:g.46733G>A
NM_001025107.3:c.1712G>A
NM_001111.5:c.2597G>AMANE SELECT
NM_001193495.2:c.1712G>A
NM_001365045.1:c.2624G>A
NM_001365046.1:c.1712G>A
NM_001365047.1:c.1712G>A
NM_001365048.1:c.1712G>A
NM_001365049.1:c.1634G>A
NM_015840.4:c.2519G>A
NM_015841.4:c.2462G>A
NP_001020278.1:p.Arg571His
NP_001102.3:p.Arg866His
NP_001180424.1:p.Arg571His
NP_001351974.1:p.Arg875His
NP_001351975.1:p.Arg571His
NP_001351976.1:p.Arg571His
NP_001351977.1:p.Arg571His
NP_001351978.1:p.Arg545His
NP_056655.3:p.Arg840His
NP_056656.3:p.Arg821His
LRG_1212t1:c.2597G>A
LRG_1212:g.46733G>A
LRG_1212p1:p.Arg866His
NC_000001.10:g.154562304C>T

Protein change:

R545H

Links:

dbSNP: rs770937947

NCBI 1000 Genomes Browser:

rs770937947

Molecular consequence:

NM_001025107.3:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001111.5:c.2597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001193495.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365045.1:c.2624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365046.1:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365047.1:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365048.1:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365049.1:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015840.4:c.2519G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015841.4:c.2462G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Symmetrical dyschromatosis of extremities (DSH)
Synonyms:: Dyschromatosis symmetrica hereditaria 1; Dyschromatosis symmetrica hereditaria; Familial reticulate acropigmentation of Dohi; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007483; MedGen: C0406775; Orphanet: 41; OMIM: 127400

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002167855	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 2, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002167855

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 2, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002167855.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces arginine with histidine at codon 866 of the ADAR protein (p.Arg866His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs770937947, ExAC 0.001%). This variant has not been reported in the literature in individuals with ADAR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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