NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Hearing impairment

Germline classification:: Pathogenic (7 submissions)
Last evaluated:: Apr 12, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000146019.21

Allele description [Variation Report for NM_004004.6(GJB2):c.35del (p.Gly12fs)]

NM_004004.6(GJB2):c.35del (p.Gly12fs)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.35del (p.Gly12fs)

Other names:

NM_004004.5(GJB2):c.35delG(p.Gly12Valfs); NM_004004.5(GJB2):c.35delG

HGVS:

NC_000013.11:g.20189552del
NG_008358.1:g.8429del
NM_004004.6:c.35delMANE SELECT
NP_003995.2:p.Gly12fs
LRG_1350t1:c.35del
LRG_1350:g.8429del
LRG_1350p1:p.Gly12fs
NC_000013.10:g.20763686del
NC_000013.10:g.20763686delC
NC_000013.10:g.20763686delC
NC_000013.10:g.20763691del
NC_000013.10:g.20763691del
NC_000013.10:g.20763691delC
NC_000013.11:g.20189547delC
NM_004004.5:c.35delG
NM_004004.6:c.35delGMANE SELECT
c.35delG
c.35delG (p.Gly12Valfs*2)
p.(Gly12Valfs*2)
p.Gly12Valfs*2
p.Gly12ValfsX2
p.Gly12fs

Protein change:

G12fs

Links:

OMIM: 121011.0005; dbSNP: rs80338939

NCBI 1000 Genomes Browser:

rs80338939

Condition(s)

Name:: Hearing impairment
Identifiers:: MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Gene
TIP1 putative lipase [Saccharomyces cerevisiae S288C]
TIP1 putative lipase [Saccharomyces cerevisiae S288C]
Gene ID:852359

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000193171	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000492742	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000853303	Center for Statistical Genetics, Columbia University	no assertion criteria provided	Pathogenic (Nov 22, 2018)	germline	research
SCV001439097	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]
SCV001571776	Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Pathogenic (Apr 12, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9285800, 30311386
SCV001736939	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002106971	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Pathogenic (Jan 29, 2021)	germline	literature only	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing, literature only, research
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM.

Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.

PubMed [citation]

PMID:: 30872814
PMCID:: PMC6777543

See all PubMed Citations (6)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193171.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492742.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Statistical Genetics, Columbia University, SCV000853303.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439097.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)
2	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001571776.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

PVS1_Strong, PS3_Strong

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001736939.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106971.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		6	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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