NM_004004.6(GJB2):c.380G>A (p.Arg127His) AND not provided

Germline classification:: Benign (5 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000589067.26

Allele description [Variation Report for NM_004004.6(GJB2):c.380G>A (p.Arg127His)]

NM_004004.6(GJB2):c.380G>A (p.Arg127His)

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.380G>A (p.Arg127His)

HGVS:

NC_000013.11:g.20189202C>T
NG_008358.1:g.8774G>A
NM_004004.6:c.380G>AMANE SELECT
NP_003995.2:p.Arg127His
NP_003995.2:p.Arg127His
LRG_1350t1:c.380G>A
LRG_1350:g.8774G>A
LRG_1350p1:p.Arg127His
NC_000013.10:g.20763341C>T
NM_004004.5:c.380G>A
P29033:p.Arg127His
c.380G>A

Protein change:

R127H

Links:

UniProtKB: P29033#VAR_015939; dbSNP: rs111033196

NCBI 1000 Genomes Browser:

rs111033196

Molecular consequence:

NM_004004.6:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Gamma-adducin; AltName: Full=Adducin-like protein 70
RecName: Full=Gamma-adducin; AltName: Full=Adducin-like protein 70
gi|12643881|sp|Q9UEY8.1|ADDG_HUMAN

Protein
LOC110120465 [Mus musculus]
LOC110120465 [Mus musculus]
Gene ID:110120465

Gene
DC049990 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC049990 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk144j13ex 5', mRNA sequence
gi|119000893|gnl|dbEST|43301416|dbj 9990.1|

Nucleotide
AL655159 XGC-gastrula Xenopus tropicalis cDNA clone TGas026e11 5', mRNA sequence
AL655159 XGC-gastrula Xenopus tropicalis cDNA clone TGas026e11 5', mRNA sequence
gi|38463184|gnl|dbEST|20498753|emb| 159.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000603832	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Apr 6, 2023)	germline	clinical testing	Citation Link,
SCV000698244	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Aug 8, 2017)	germline	clinical testing	PubMed (21) [See all records that cite these PMIDs] 12562518, 20668687, 11493200, 19929408, 22613756, 15146474, 27884173, 26749107, 16840571, 26188157, 12189493, 19366456, 22389666, 12746422, 16300957, 17426645, 15070423, 15967879, 15113126, 16380907, 12176036 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV000977442	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jun 8, 2018)	germline	clinical testing	Citation Link,
SCV001720414	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001957712	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

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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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.

Wang HL, Chang WT, Li AH, Yeh TH, Wu CY, Chen MS, Huang PC.

J Neurochem. 2003 Feb;84(4):735-42.

PubMed [citation]

PMID:: 12562518

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Rodriguez-Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I.

PLoS One. 2010 Jul 26;5(7):e11804. doi: 10.1371/journal.pone.0011804.

PubMed [citation]

PMID:: 20668687
PMCID:: PMC2909915

See all PubMed Citations (22)

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603832.6

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698244.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (21)

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

From GeneDx, SCV000977442.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Invitae, SCV001720414.4

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957712.1

#	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: Aug 25, 2024

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