NM_001111.5(ADAR):c.941_942del (p.Ser314fs) AND Symmetrical dyschromatosis of extremities

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2007
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:: RCV000015945.27

Allele description [Variation Report for NM_001111.5(ADAR):c.941_942del (p.Ser314fs)]

NM_001111.5(ADAR):c.941_942del (p.Ser314fs)

Gene:

ADAR:adenosine deaminase RNA specific [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_001111.5(ADAR):c.941_942del (p.Ser314fs)

HGVS:

NC_000001.11:g.154601700AG[1]
NG_011844.2:g.34858CT[1]
NM_001025107.3:c.56_57del
NM_001111.5:c.941_942delMANE SELECT
NM_001193495.2:c.56_57del
NM_001365045.1:c.968_969del
NM_001365046.1:c.56_57del
NM_001365047.1:c.56_57del
NM_001365048.1:c.56_57del
NM_001365049.1:c.56_57del
NM_015840.4:c.941_942del
NM_015841.4:c.941_942del
NP_001020278.1:p.Ser19fs
NP_001102.3:p.Ser314fs
NP_001180424.1:p.Ser19fs
NP_001351974.1:p.Ser323fs
NP_001351975.1:p.Ser19fs
NP_001351976.1:p.Ser19fs
NP_001351977.1:p.Ser19fs
NP_001351978.1:p.Ser19fs
NP_056655.3:p.Ser314fs
NP_056656.3:p.Ser314fs
LRG_1212t1:c.941_942del
LRG_1212:g.34858CT[1]
LRG_1212p1:p.Ser314fs
NC_000001.10:g.154574176AG[1]
NG_011844.1:g.31261_31262del
NM_001025107.2:c.56_57del
NM_001111.4:c.941_942del
NP_001020278.1:p.Cys19fs

Protein change:

S19fs

Links:

OMIM: 146920.0006; dbSNP: rs387906541

NCBI 1000 Genomes Browser:

rs387906541

Molecular consequence:

NM_001025107.3:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001111.5:c.941_942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001193495.2:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365045.1:c.968_969del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365046.1:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365047.1:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365048.1:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365049.1:c.56_57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015840.4:c.941_942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015841.4:c.941_942del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000036212	OMIM	no assertion criteria provided	Pathogenic (May 1, 2007)	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

SCV000036212

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2007)

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

Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH).

Xing Q, Shu A, Yu L, Zhang A, DU J, Xuan J, Wang L, He G, Meng J, Li X, Feng G, He L.

Eur J Dermatol. 2007 May-Jun;17(3):247-8. Epub 2007 May 4. No abstract available.

PubMed [citation]

PMID:: 17478391

Details of each submission

From OMIM, SCV000036212.4

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

Description

In affected members of a large 5-generation Chinese family with dyschromatosis symmetrica hereditaria (DSH; 127400), Xing et al. (2007) identified a 2-bp deletion (941delCT) in exon 2 of the ADAR gene, resulting in a frameshift and premature termination of the protein. The family was from Hunan province.

#	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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