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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 22, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000678860.9

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 loss
Identifiers:: MedGen: C3887873

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000805053	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Feb 22, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805053

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Pathogenic
(Feb 22, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805053.1

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

Last Updated: Nov 24, 2024

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