NM_000166.6(GJB1):c.637A>G (p.Ile213Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 5, 2017
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:: RCV000622462.2

Allele description [Variation Report for NM_000166.6(GJB1):c.637A>G (p.Ile213Val)]

NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.637A>G (p.Ile213Val)

HGVS:

NC_000023.11:g.71224344A>G
NG_008357.1:g.14133A>G
NM_000166.6:c.637A>GMANE SELECT
NM_001097642.3:c.637A>G
NP_000157.1:p.Ile213Val
NP_001091111.1:p.Ile213Val
LRG_245t2:c.637A>G
LRG_245:g.14133A>G
LRG_245p2:p.Ile213Val
NC_000023.10:g.70444194A>G
NM_000166.5:c.637A>G

Protein change:

I213V

Links:

dbSNP: rs753503984

NCBI 1000 Genomes Browser:

rs753503984

Molecular consequence:

NM_000166.6:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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hsp70-binding protein 1 isoform X1 [Homo sapiens]
hsp70-binding protein 1 isoform X1 [Homo sapiens]
gi|1370474770|ref|XP_024307204.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742508	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (May 5, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742508

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(May 5, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW, Kleopa KA, Shumas S, Scherer SS.

Neurobiol Dis. 2002 Oct;11(1):43-52.

PubMed [citation]

PMID:: 12460545

Details of each submission

From Ambry Genetics, SCV000742508.3

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

Last Updated: Sep 29, 2024

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