chr13:20763612:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,612-20,763,612
hg38 chr13:20,189,473-20,189,473 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.109G>A NP_003995.2:p.Val37Ile
Ensemble ENST00000382848.5:c.109G>A ENST00000382848.5:p.Val37Ile
ENST00000382844.2:c.109G>A ENST00000382844.2:p.Val37Ile
Summary

MGeND

Clinical significance Pathogenic
Variant entry 6
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.006
ToMMo:0.011
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.072

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 121011 OMIM
HGNC 4284 HGNC
Ensembl ENSG00000165474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47910976 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic deafness, autosomal recessive germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic deafness, autosomal recessive germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic deafness, autosomal recessive unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Pathogenic bilateral sensorineural hearing loss unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline inherited unknown Detail
Pathogenic Likely pathogenic Pathogenic low penetrance 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2021-04-12 criteria provided, multiple submitters, no conflicts germline unknown Detail
Pathogenic 2019-06-24 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome unknown Detail
Pathogenic 2021-10-17 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A maternal unknown Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2016-08-05 criteria provided, single submitter nonsyndromic deafness germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2020-02-10 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic criteria provided, single submitter GJB2-related disorder germline Detail
Pathogenic 2023-10-31 criteria provided, single submitter GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural These data provide new information about carrier rates for GJB2-based hearing lo... BeFree 17041943 Detail
0.345 Sensorineural Hearing Loss (disorder) We present two East Asian patients with sensorineural hearing loss (SNHL) and co... BeFree 16952406 Detail
0.345 Sensorineural Hearing Loss (disorder) Homozygosity for the V37I Connexin 26 mutation in three unrelated children with ... BeFree 12121355 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pedia... BeFree 23637863 Detail
0.345 Sensorineural Hearing Loss (disorder) Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V3... BeFree 16840571 Detail
0.345 Sensorineural Hearing Loss (disorder) V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of... BeFree 17036313 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural A total of 199 (19.6%) babies were found to have at least 1 mutated allele on th... BeFree 21811586 Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafnes... UNIPROT 10607953 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Nonsyndromic Deafness ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Inborn genetic diseases ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND GJB2-related disorder ClinVar Detail
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND GJB2-Related Autosomal Recessive Nonsyndromic Hearing Lo... ClinVar Detail
NA DisGeNET Detail
These data provide new information about carrier rates for GJB2-based hearing loss in various ethnic... DisGeNET Detail
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosit... DisGeNET Detail
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearin... DisGeNET Detail
Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and ... DisGeNET Detail
Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is commo... DisGeNET Detail
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. DisGeNET Detail
A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, ... DisGeNET Detail
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese po... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72474224 dbSNP
Genome
hg19
Position
chr13:20,763,612-20,763,612
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
170.77
Standard deviation of sample read depth (HGVD)
74.01
Number of reference allele (HGVD)
2405
Number of alternative allele (HGVD)
15
Allele Frequency (HGVD)
0.006198347107438017
Gene Symbol (HGVD)
GJB2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs72474224
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0106
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
178
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
626
East Asian Heterozygous Counts (ExAC)
550
East Asian Homozygous Counts (ExAC)
38
East Asian Allele Frequency (ExAC)
0.07242017584451643
Chromosome Counts in All Race (ExAC)
121300
Allele Counts in All Race (ExAC)
799
Heterozygous Counts in All Race (ExAC)
721
Homozygous Counts in All Race (ExAC)
39
Allele Frequency in All Race (ExAC)
0.006586974443528442
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