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NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) AND Waardenburg syndrome type 4A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002466671.8

Allele description [Variation Report for NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)]

NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)

Genes:
LOC107882129:EDNRB proximal promoter region [Gene]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
HGVS:
  • NC_000013.11:g.77919598A>T
  • NG_011630.3:g.60126T>A
  • NG_047194.1:g.939A>T
  • NM_000115.5:c.-51-974T>A
  • NM_001201397.2:c.18T>A
  • NP_001188326.1:p.Cys6Ter
  • NP_001188326.1:p.Cys6Ter
  • NC_000013.10:g.78493733A>T
  • NM_001201397.1:c.18T>A
Protein change:
C6*
Links:
dbSNP: rs199927859
NCBI 1000 Genomes Browser:
rs199927859
Molecular consequence:
  • NM_000115.5:c.-51-974T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001201397.2:c.18T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Waardenburg syndrome type 4A (WS4A)
Synonyms:
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A; Hirschsprung disease with pigmentary anomaly
Identifiers:
MONDO: MONDO:0010192; MedGen: C1848519; Orphanet: 897; OMIM: 277580

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002762752HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 24, 2022) 		biparentalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV002762752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PM2_Moderate,

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024