chr13:20189299:C>T Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,438-20,763,438 View the variant detail on this assembly version.
hg38 chr13:20,189,299-20,189,299

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.283G>A NP_003995.2:p.Val95Met
Ensemble ENST00000382844.2:c.283G>A ENST00000382844.2:p.Val95Met
ENST00000382848.5:c.283G>A ENST00000382848.5:p.Val95Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv47910890 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2020-07-10 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline inherited unknown Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2017-05-02 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic Likely pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-08-21 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2022-04-27 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.345 Sensorineural Hearing Loss (disorder) Further studies are required to determine the exact mechanism by which mutant (V... BeFree 12562518 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.283G>A (p.Val95Met) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NA DisGeNET Detail
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R... 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
rs111033299 dbSNP
Genome
hg38
Position
chr13:20,189,299-20,189,299
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs111033299
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121324
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.121196135966503E-5
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