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NM_001955.5(EDN1):c.230C>A (p.Pro77His) AND Auriculocondylar syndrome 3

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:
RCV000106313.3

Allele description [Variation Report for NM_001955.5(EDN1):c.230C>A (p.Pro77His)]

NM_001955.5(EDN1):c.230C>A (p.Pro77His)

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.230C>A (p.Pro77His)
HGVS:
  • NC_000006.12:g.12292506C>A
  • NG_016196.1:g.7211C>A
  • NM_001168319.2:c.227C>A
  • NM_001955.5:c.230C>AMANE SELECT
  • NP_001161791.1:p.Pro76His
  • NP_001946.3:p.Pro77His
  • NC_000006.11:g.12292739C>A
  • NM_001955.4:c.230C>A
  • P05305:p.Pro77His
Protein change:
P76H; PRO77HIS
Links:
UniProtKB: P05305#VAR_071153; OMIM: 131240.0003; dbSNP: rs587777232
NCBI 1000 Genomes Browser:
rs587777232
Molecular consequence:
  • NM_001168319.2:c.227C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001955.5:c.230C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Auriculocondylar syndrome 3 (ARCND3)
Identifiers:
MONDO: MONDO:0014312; MedGen: C3810332; Orphanet: 137888; OMIM: 615706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000143776OMIM
no assertion criteria provided
Pathogenic
(Dec 5, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Auriculo-condylar syndrome: additional patients.

Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM.

Am J Med Genet. 2002 Oct 1;112(2):209-14.

PubMed [citation]
PMID:
12244558

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, SCV000143776.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 23-year-old man from a consanguineous family with auriculocondylar syndrome-3 (ARCND3; 615706), originally described by Guion-Almeida et al. (2002) (patient 2), Gordon et al. (2013) identified homozygosity for a c.230C-A transversion in the EDN1 gene, resulting in a pro77-to-his (P77H) substitution at a highly conserved residue within bigEDN1, 4 amino acids C-terminal to the ECE enzyme cleavage site. The man's unaffected mother was heterozygous for the mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023