NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) AND ABCD syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2002
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:: RCV000018120.30

Allele description [Variation Report for NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)]

NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)

Genes:

EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q22.3

Genomic location:

Preferred name:

NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)

HGVS:

NC_000013.11:g.77903356G>A
NG_011630.3:g.76368C>T
NM_000115.5:c.601C>T
NM_001122659.3:c.601C>TMANE SELECT
NM_001201397.2:c.871C>T
NM_003991.4:c.601C>T
NP_000106.1:p.Arg201Ter
NP_001116131.1:p.Arg201Ter
NP_001188326.1:p.Arg291Ter
NP_001188326.1:p.Arg291Ter
NP_003982.1:p.Arg201Ter
NC_000013.10:g.78477491G>A
NM_000115.3:c.601C>T
NM_001201397.1:c.871C>T

Protein change:

R201*; ARG201TER

Links:

OMIM: 131244.0008; dbSNP: rs104894391

NCBI 1000 Genomes Browser:

rs104894391

Molecular consequence:

NM_000115.5:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001122659.3:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001201397.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003991.4:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: ABCD syndrome (ABCDS)
Synonyms:: Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and Deafness
Identifiers:: MONDO: MONDO:0010895; MedGen: C1838099; OMIM: 600501

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038399	OMIM	no assertion criteria provided	Pathogenic (Mar 15, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7778600, 11891690

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038399

OMIM

no assertion criteria provided

Pathogenic
(Mar 15, 2002)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.

Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M.

Am J Med Genet. 1995 Apr 10;56(3):322-6.

PubMed [citation]

PMID:: 7778600

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM.

Am J Med Genet. 2002 Mar 15;108(3):223-5.

PubMed [citation]

PMID:: 11891690

Details of each submission

From OMIM, SCV000038399.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In the fifth child affected with ABCD syndrome (600501) in a consanguineous Kurdish family, previously described by Gross et al. (1995), Verheij et al. (2002) identified a homozygous C-to-T transition in the EDNRB gene, resulting in the substitution of a stop codon for an arginine residue in exon 3 (R201X). The affected female infant presented with bilateral deafness, albinism, a black lock at the right temporooccipital region, and spots of retinal depigmentation. She also had a severe defect of intestinal innervation from which she died at 5 weeks of age. Verheij et al. (2002) suggested that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome (277580).

#	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 15, 2024

ClinVar

Relating variation to medicine