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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

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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: Sep 29, 2024