NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) AND Hearing loss

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 4, 2012
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:: RCV000678890.1

Allele description [Variation Report for NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)]

NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)

HGVS:

NC_000013.11:g.20189022T>C
NG_008358.1:g.8954A>G
NM_004004.6:c.560A>GMANE SELECT
NP_003995.2:p.Glu187Gly
LRG_1350t1:c.560A>G
LRG_1350:g.8954A>G
LRG_1350p1:p.Glu187Gly
NC_000013.10:g.20763161T>C
NM_004004.5:c.560A>G

Protein change:

E187G

Links:

dbSNP: rs1451982228

NCBI 1000 Genomes Browser:

rs1451982228

Molecular consequence:

NM_004004.6:c.560A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000805083	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Uncertain significance (Jan 4, 2012)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805083

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

no assertion criteria provided

Uncertain significance
(Jan 4, 2012)

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, SCV000805083.1

#	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: Oct 26, 2024

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