chr13:20763620:A>G Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,620-20,763,620
hg38 chr13:20,189,481-20,189,481 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.101T>C NP_003995.2:p.Met34Thr
Ensemble ENST00000382848.5:c.101T>C ENST00000382848.5:p.Met34Thr
ENST00000382844.2:c.101T>C ENST00000382844.2:p.Met34Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv47910983 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-06-02 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline paternal unknown Detail
Pathogenic Likely pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2019-06-24 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2021-03-07 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A germline paternal unknown Detail
no classifications from unflagged records 2023-04-01 no classifications from unflagged records germline Detail
Pathogenic 2024-04-11 criteria provided, single submitter Rare genetic deafness germline 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 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2023-09-25 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2016-08-05 criteria provided, single submitter nonsyndromic deafness germline Detail
Pathogenic 2021-04-12 criteria provided, single submitter germline Detail
Pathogenic 2022-02-21 criteria provided, single submitter germline Detail
Pathogenic 2024-03-25 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.065 Hearing Loss, Mixed Conductive-Sensorineural The most common GJB2 gene mutations in Estonian children with early onset hearin... BeFree 20708129 Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural These data support the hypothesis of a functional role for M34T as a dominant al... BeFree 12176036 Detail
0.345 Sensorineural Hearing Loss (disorder) Genetic analysis of the connexin-26 M34T variant: identification of genotype M34... BeFree 11134236 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Inborn genetic diseases ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Nonsyndromic Deafness ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND See cases ClinVar Detail
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
The most common GJB2 gene mutations in Estonian children with early onset hearing loss were c.35delG... DisGeNET Detail
NA DisGeNET Detail
These data support the hypothesis of a functional role for M34T as a dominant allele and represent a... DisGeNET Detail
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating w... 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
rs35887622 dbSNP
Genome
hg19
Position
chr13:20,763,620-20,763,620
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121354
Allele Counts in All Race (ExAC)
1032
Heterozygous Counts in All Race (ExAC)
1006
Homozygous Counts in All Race (ExAC)
13
Allele Frequency in All Race (ExAC)
0.008504046014140449
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