NM_001955.5(EDN1):c.191T>A (p.Val64Asp) AND Question mark ears, isolated

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 2013
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:: RCV000106314.4

Allele description [Variation Report for NM_001955.5(EDN1):c.191T>A (p.Val64Asp)]

NM_001955.5(EDN1):c.191T>A (p.Val64Asp)

Gene:

EDN1:endothelin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.1

Genomic location:

Preferred name:

NM_001955.5(EDN1):c.191T>A (p.Val64Asp)

HGVS:

NC_000006.12:g.12292467T>A
NG_016196.1:g.7172T>A
NM_001168319.2:c.188T>A
NM_001955.5:c.191T>AMANE SELECT
NP_001161791.1:p.Val63Asp
NP_001946.3:p.Val64Asp
NC_000006.11:g.12292700T>A
NM_001955.4:c.191T>A
P05305:p.Val64Asp

Protein change:

V63D; VAL64ASP

Links:

UniProtKB: P05305#VAR_071152; OMIM: 131240.0004; dbSNP: rs587777233

NCBI 1000 Genomes Browser:

rs587777233

Molecular consequence:

NM_001168319.2:c.188T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001955.5:c.191T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Question mark ears, isolated (QME)
Synonyms:: EARS, PROMINENT AND CONSTRICTED
Identifiers:: MONDO: MONDO:0013013; MedGen: C2748545; Orphanet: 137888; OMIM: 612798

Recent activity

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Homo sapiens T-box brain transcription factor 1 (TBR1), mRNA
Homo sapiens T-box brain transcription factor 1 (TBR1), mRNA
gi|1519246516|ref|NM_006593.4|

Nucleotide
Microbulbifer sp. SAOS-129_SWC chromosome, complete genome
Microbulbifer sp. SAOS-129_SWC chromosome, complete genome
gi|2734490912|gb|CP155567.1|

Nucleotide
LOC127408776 [Homo sapiens]
LOC127408776 [Homo sapiens]
Gene ID:127408776

Gene
Microbulbifer
Microbulbifer

Genome

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000143777	OMIM	no assertion criteria provided	Pathogenic (Dec 5, 2013)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 23315542, 24268655

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000143777

OMIM

no assertion criteria provided

Pathogenic
(Dec 5, 2013)

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

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, et al.

J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12.

PubMed [citation]

PMID:: 23315542

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.

PubMed [citation]

PMID:: 24268655
PMCID:: PMC3853412

Details of each submission

From OMIM, SCV000143777.3

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

Description

In an Armenian mother and daughter (family F2) with isolated question mark ears (QME; 612798), previously studied by Gordon et al. (2013) (case 11), Gordon et al. (2013) identified heterozygosity for a c.191T-A transversion (c.191T-A, NM_001955.4) in the EDN1 gene, resulting in a val64-to-asp (V64D) substitution at a highly conserved residue within the mature EDN1 protein.

#	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: Mar 26, 2023

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