NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Nonsyndromic Deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 5, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001270137.9

Allele description [Variation Report for NM_004004.6(GJB2):c.101T>C (p.Met34Thr)]

NM_004004.6(GJB2):c.101T>C (p.Met34Thr)

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.101T>C (p.Met34Thr)

Other names:

rs35887622; NM_004004.5(GJB2):c.101T>C

HGVS:

NC_000013.11:g.20189481A>G
NG_008358.1:g.8495T>C
NM_004004.6:c.101T>CMANE SELECT
NP_003995.2:p.Met34Thr
NP_003995.2:p.Met34Thr
LRG_1350t1:c.101T>C
LRG_1350:g.8495T>C
LRG_1350p1:p.Met34Thr
NC_000013.10:g.20763620A>G
NM_004004.5:c.101T>C
P29033:p.Met34Thr
c.101T>C
p.(Met34Thr)

Protein change:

M34T; MET34THR

Links:

UniProtKB: P29033#VAR_002138; OMIM: 121011.0001; dbSNP: rs35887622

NCBI 1000 Genomes Browser:

rs35887622

Molecular consequence:

NM_004004.6:c.101T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Nonsyndromic Deafness
Synonyms:: Non-syndromic hearing loss; Nonsyndromic hearing loss
Identifiers:: MeSH: C580334; MedGen: C3711374

Recent activity

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RecName: Full=C-Jun-amino-terminal kinase-interacting protein 1; Short=JIP-1; Sh...
RecName: Full=C-Jun-amino-terminal kinase-interacting protein 1; Short=JIP-1; Short=JNK-interacting protein 1; AltName: Full=Islet-brain 1; Short=IB-1; AltName: Full=JNK MAP kinase scaffold protein 1; AltName: Full=Mitogen-activated protein kinase 8-interacting protein 1
gi|17433093|sp|Q9UQF2.1|JIP1_HUMAN

Protein
SRD5A1 [Gracilinanus agilis]
SRD5A1 [Gracilinanus agilis]
Gene ID:123252605

Gene
suca-1 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial [Caenorha...
suca-1 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial [Caenorhabditis elegans]
Gene ID:181280

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449019	Knight Diagnostic Laboratories, Oregon Health and Sciences University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 5, 2016)	germline	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

SCV001449019

Knight Diagnostic Laboratories, Oregon Health and Sciences University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 5, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	5	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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001449019.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	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		5	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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