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NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) AND Palmoplantar keratoderma-deafness syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 2016
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:
RCV000234850.1

Allele description [Variation Report for NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)]

NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)

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.66G>T (p.Lys22Asn)
HGVS:
  • NC_000013.11:g.20189516C>A
  • NG_008358.1:g.8460G>T
  • NM_004004.6:c.66G>TMANE SELECT
  • NP_003995.2:p.Lys22Asn
  • LRG_1350t1:c.66G>T
  • LRG_1350:g.8460G>T
  • LRG_1350p1:p.Lys22Asn
  • NC_000013.10:g.20763655C>A
  • NM_004004.5:c.66G>T
Protein change:
K22N
Links:
dbSNP: rs879253741
NCBI 1000 Genomes Browser:
rs879253741
Molecular consequence:
  • NM_004004.6:c.66G>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
SCV000280581Medical Genetics, University of Parma
no assertion criteria provided
Pathogenic
(Apr 26, 2016) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics, University of Parma, SCV000280581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided

Description

Variant predicted to result in aminoacid change not previously reported in patients with disease. Variant detected in four affected family members.

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

Last Updated: Apr 23, 2022