NM_004004.6(GJB2):c.380G>A (p.Arg127His) AND Progressive sensorineural hearing impairment

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Feb 9, 2024
Review status:: no classifications from unflagged records

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:: RCV000626854.11

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)

Name:: Progressive sensorineural hearing impairment
Identifiers:: MedGen: C1843156; Human Phenotype Ontology: HP:0000408

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747557.1

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747557	Centre for Mendelian Genomics, University Medical Centre Ljubljana	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000747557

Centre for Mendelian Genomics, University Medical Centre Ljubljana

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Oct 26, 2024

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