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NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 16, 2015
Accession:
VCV000017020.2
Variation ID:
17020
Description:
single nucleotide variant
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NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)

Allele ID
32059
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.11
Genomic location
13: 20189434 (GRCh38) GRCh38 UCSC
13: 20763573 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.20763573C>T
NC_000013.11:g.20189434C>T
NM_004004.6:c.148G>A NP_003995.2:p.Asp50Asn missense
... more HGVS
Protein change
D50N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs28931594
ClinGen: CA127027
UniProtKB: P29033#VAR_015456
OMIM: 121011.0020
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 16, 2015 RCV000412852.2
Pathogenic 1 no assertion criteria provided Mar 1, 2009 RCV000018546.30
Pathogenic 1 no assertion criteria provided Mar 1, 2009 RCV000018547.29
Pathogenic 1 no assertion criteria provided Oct 17, 2006 RCV000678868.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB2 Dosage sensitivity unlikely No evidence available GRCh38
GRCh37
296 345

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 16, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490534.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The D50N variant in the GJB2 gene is a common, recurrent pathogenic variant that accounts for the vast majority (>80%) of cases with keratitis-ichthyosis-deafness (KID) ... (more)
Pathogenic
(Oct 31, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000227306.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (4)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Mar 01, 2009)
no assertion criteria provided
Method: literature only
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000038828.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (6)
Pathogenic
(Mar 01, 2009)
no assertion criteria provided
Method: literature only
HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS
Allele origin: germline
OMIM
Accession: SCV000038829.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (6)
Pathogenic
(Oct 17, 2006)
no assertion criteria provided
Method: clinical testing
Hearing loss
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000805061.1
Submitted: (Jul 17, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. Lee JR The Journal of investigative dermatology 2009 PMID: 18987669
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. Titeux M The Journal of investigative dermatology 2009 PMID: 18843290
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Nyquist GG American journal of medical genetics. Part A 2007 PMID: 17330861
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. Di WL Journal of cell science 2005 PMID: 15769851
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Janecke AR American journal of medical genetics. Part A 2005 PMID: 15633193
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. Alvarez A American journal of medical genetics. Part A 2003 PMID: 12548749
HID and KID syndromes are associated with the same connexin 26 mutation. van Geel M The British journal of dermatology 2002 PMID: 12072059
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. van Steensel MA The Journal of investigative dermatology 2002 PMID: 11918723
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard G American journal of human genetics 2002 PMID: 11912510
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 - - - -

Record last updated Nov 06, 2019