NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser) AND Symmetrical dyschromatosis of extremities

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2003
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:: RCV000015943.25

Allele description [Variation Report for NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)]

NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)

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.3494T>C (p.Phe1165Ser)

HGVS:

NC_000001.11:g.154584993A>G
NG_011844.1:g.47969T>C
NG_011844.2:g.51568T>C
NM_001025107.3:c.2609T>C
NM_001111.5:c.3494T>CMANE SELECT
NM_001193495.2:c.2609T>C
NM_001365045.1:c.3521T>C
NM_001365046.1:c.2609T>C
NM_001365047.1:c.2609T>C
NM_001365048.1:c.2609T>C
NM_001365049.1:c.2531T>C
NM_015840.4:c.3416T>C
NM_015841.4:c.3359T>C
NP_001020278.1:p.Phe870Ser
NP_001102.3:p.Phe1165Ser
NP_001180424.1:p.Phe870Ser
NP_001351974.1:p.Phe1174Ser
NP_001351975.1:p.Phe870Ser
NP_001351976.1:p.Phe870Ser
NP_001351977.1:p.Phe870Ser
NP_001351978.1:p.Phe844Ser
NP_056655.3:p.Phe1139Ser
NP_056656.3:p.Phe1120Ser
LRG_1212t1:c.3494T>C
LRG_1212:g.51568T>C
LRG_1212p1:p.Phe1165Ser
NC_000001.10:g.154557469A>G

Protein change:

F1120S; PHE1165SER

Links:

OMIM: 146920.0004; dbSNP: rs28936681

NCBI 1000 Genomes Browser:

rs28936681

Molecular consequence:

NM_001025107.3:c.2609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001111.5:c.3494T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001193495.2:c.2609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365045.1:c.3521T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365046.1:c.2609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365047.1:c.2609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365048.1:c.2609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365049.1:c.2531T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015840.4:c.3416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015841.4:c.3359T>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036210	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036210

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2003)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y.

Am J Hum Genet. 2003 Sep;73(3):693-9. Epub 2003 Aug 11.

PubMed [citation]

PMID:: 12916015
PMCID:: PMC1180697

Details of each submission

From OMIM, SCV000036210.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Japanese family with autosomal dominant dyschromatosis symmetrica hereditaria (DSH; 127400) in 5 successive generations, Miyamura et al. (2003) identified a TTT-to-TCT transition in exon 15 of the DSRAD gene, resulting in a phe1165-to-ser (F1165S) mutation.

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

Last Updated: Apr 23, 2022

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