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NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) AND Palmoplantar keratoderma-deafness syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 22, 2020
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:
RCV001799506.9

Allele description [Variation Report for NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)]

NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
HGVS:
  • NC_000013.11:g.20189359G>A
  • NG_008358.1:g.8617C>T
  • NM_004004.6:c.223C>TMANE SELECT
  • NP_003995.2:p.Arg75Trp
  • NP_003995.2:p.Arg75Trp
  • LRG_1350t1:c.223C>T
  • LRG_1350:g.8617C>T
  • LRG_1350p1:p.Arg75Trp
  • NC_000013.10:g.20763498G>A
  • NM_004004.5:c.223C>T
  • P29033:p.Arg75Trp
  • c.223C>T
  • p.(Arg75Trp)
Protein change:
R75W; ARG75TRP
Links:
UniProtKB: P29033#VAR_002140; OMIM: 121011.0011; dbSNP: rs104894402
NCBI 1000 Genomes Browser:
rs104894402
Molecular consequence:
  • NM_004004.6:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Palmoplantar keratoderma-deafness syndrome
Synonyms:
Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007852; MedGen: C1835672; Orphanet: 2202; OMIM: 148350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001739303Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 22, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV001739303.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024