NM_001822.5(CHN1):c.427T>C (p.Tyr143His) AND Duane syndrome type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 8, 2008
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:: RCV000019107.27

Allele description

NM_001822.5(CHN1):c.427T>C (p.Tyr143His)

Gene:

CHN1:chimerin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_001822.5(CHN1):c.427T>C (p.Tyr143His)

HGVS:

NC_000002.12:g.174877962A>G
NG_012642.1:g.132481T>C
NG_012642.2:g.132481T>C
NP_001020372.2:p.Tyr143His
NP_001813.1:p.Tyr143His
NC_000002.11:g.175742690A>G
NM_001025201.3:c.427T>C
NM_001822.5:c.427T>C
P15882:p.Tyr143His

Protein change:

Y143H; TYR143HIS

Links:

UniProtKB: P15882#VAR_047942; OMIM: 118423.0003; dbSNP: rs121912794

NCBI 1000 Genomes Browser:

rs121912794

Condition(s)

Name:: Duane syndrome type 2 (DURS2)
Identifiers:: MedGen: C0751083; Orphanet: 233; OMIM: 604356

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039395	OMIM	no assertion criteria provided	Pathogenic (Aug 8, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 17197532, 18653847

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039395

OMIM

no assertion criteria provided

Pathogenic
(Aug 8, 2008)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Engle EC, Andrews C, Law K, Demer JL.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):189-93.

PubMed [citation]

PMID:: 17197532
PMCID:: PMC2829295

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, et al.

Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24.

PubMed [citation]

PMID:: 18653847
PMCID:: PMC2593867

Details of each submission

From OMIM, SCV000039395.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a US Caucasian family with Duane retraction syndrome-2 (604356) initially described by Engle et al. (2007), Miyake et al. (2008) identified a T-to-C transition at nucleotide 427 in exon 6 of the CHN1 gene, resulting in a tyrosine-to-histidine substitution at codon 143 (Y143H). This mutation segregated with affected members in the family and was not identified in 788 controls.

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

Last Updated: Nov 2, 2019

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