NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Hearing loss

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 21, 2013
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:: RCV000678879.1

Allele description [Variation Report for NM_004004.6(GJB2):c.334_335del (p.Lys112fs)]

NM_004004.6(GJB2):c.334_335del (p.Lys112fs)

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.334_335del (p.Lys112fs)

HGVS:

NC_000013.10:g.20763386_20763387del
NC_000013.11:g.20189248_20189249del
NG_008358.1:g.8728_8729del
NM_004004.6:c.334_335delMANE SELECT
NP_003995.2:p.Lys112fs
LRG_1350t1:c.334_335del
LRG_1350:g.8728_8729del
LRG_1350p1:p.Lys112fs
NC_000013.10:g.20763386_20763387del
NC_000013.10:g.20763387_20763388del
NC_000013.10:g.20763387_20763388delTT
NC_000013.11:g.20189248_20189249delTT
NM_004004.5:c.333_334delAA
NM_004004.5:c.334_335delAA
NM_004004.6:c.334_335delAAMANE SELECT
p.Lys112Glufs*2
p.Lys112fs

Protein change:

K112fs

Links:

dbSNP: rs756484720

NCBI 1000 Genomes Browser:

rs756484720

Molecular consequence:

NM_004004.6:c.334_335del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000805072	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Mar 21, 2013)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805072

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

no assertion criteria provided

Pathogenic
(Mar 21, 2013)

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, SCV000805072.1

#	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: Apr 20, 2024

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