U.S. flag

An official website of the United States government

NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) AND Knuckle pads, deafness AND leukonychia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2005
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:
RCV000018562.28

Allele description [Variation Report for NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)]

NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)

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.175G>A (p.Gly59Ser)
HGVS:
  • NC_000013.11:g.20189407C>T
  • NG_008358.1:g.8569G>A
  • NM_004004.5:c.175G>A
  • NM_004004.6:c.175G>AMANE SELECT
  • NP_003995.2:p.Gly59Ser
  • LRG_1350t1:c.175G>A
  • LRG_1350:g.8569G>A
  • LRG_1350p1:p.Gly59Ser
  • NC_000013.10:g.20763546C>T
  • P29033:p.Gly59Ser
Protein change:
G59S; GLY59SER
Links:
UniProtKB: P29033#VAR_032751; OMIM: 121011.0035; dbSNP: rs104894410
NCBI 1000 Genomes Browser:
rs104894410
Molecular consequence:
  • NM_004004.6:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Knuckle pads, deafness AND leukonychia syndrome
Synonyms:
Knuckle pads, leuconychia and sensorineural deafness; Bart-Pumphrey syndrome
Identifiers:
MONDO: MONDO:0007866; MedGen: C0266004; Orphanet: 2698; OMIM: 149200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038844OMIM
no assertion criteria provided
Pathogenic
(Jul 30, 2005) 		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

G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE.

Am J Med Genet A. 2005 Jul 30;136(3):282-4. No abstract available.

PubMed [citation]
PMID:
15952212

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

Heathcote K, Syrris P, Carter ND, Patton MA.

J Med Genet. 2000 Jan;37(1):50-1.

PubMed [citation]
PMID:
10633135
PMCID:
PMC1734451

Details of each submission

From OMIM, SCV000038844.2

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

Description

In a 26-year-old male patient with Bart-Pumphrey syndrome (BAPS; 149200), Alexandrino et al. (2005) identified heterozygosity for a 175G-A transition in the GJB2 gene, resulting in a gly59-to-ser (G59S) substitution. A change in the same codon, G59A (121011.0015), was reported by Heathcote et al. (2000) in connection with the syndrome of hearing loss and hyperkeratosis.

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

Last Updated: Jun 23, 2024