NM_005199.5(CHRNG):c.753_754del (p.Val253fs) AND CHRNG-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 26, 2018
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:: RCV000778602.5

Allele description [Variation Report for NM_005199.5(CHRNG):c.753_754del (p.Val253fs)]

NM_005199.5(CHRNG):c.753_754del (p.Val253fs)

Gene:

CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_005199.5(CHRNG):c.753_754del (p.Val253fs)

HGVS:

NC_000002.12:g.232543030_232543031del
NG_012954.2:g.8339_8340del
NM_005199.5:c.753_754delMANE SELECT
NP_005190.4:p.Val253Alafs
NP_005190.4:p.Val253fs
LRG_1275t1:c.753_754del
LRG_1275:g.8339_8340del
LRG_1275p1:p.Val253fs
NC_000002.11:g.233407740_233407741del
NC_000002.11:g.233407740_233407741del
NG_012954.1:g.8304_8305del
NM_005199.4:c.753_754del
NM_005199.4:c.753_754delCT
NM_005199.5:c.753_754delCTMANE SELECT

Protein change:

V253fs

Links:

OMIM: 100730.0007; dbSNP: rs767503038

NCBI 1000 Genomes Browser:

rs767503038

Molecular consequence:

NM_005199.5:c.753_754del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: CHRNG-related disorder
Synonyms:: CHRNG-Related Disorders; CHRNG-related condition
Identifiers:

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LOC116946855 [Petromyzon marinus]
LOC116946855 [Petromyzon marinus]
Gene ID:116946855

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000914910	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Pathogenic (Oct 26, 2018)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 24038971, 16826531, 25957469, 26752647, 27245440, 22167768 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914910

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)

Pathogenic
(Oct 26, 2018)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Neuromotor synapses in Escobar syndrome.

Robinson KG, Viereck MJ, Margiotta MV, Gripp KW, Abdul-Rahman OA, Akins RE.

Am J Med Genet A. 2013 Dec;161A(12):3042-8. doi: 10.1002/ajmg.a.36154. Epub 2013 Aug 16.

PubMed [citation]

PMID:: 24038971
PMCID:: PMC5600816

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER.

Am J Hum Genet. 2006 Aug;79(2):390-5. Epub 2006 Jun 20.

PubMed [citation]

PMID:: 16826531
PMCID:: PMC1559492

See all PubMed Citations (6)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914910.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

The CHRNG c.753_754delCT (p.Val253AlafsTer44) variant results in a frameshift, and is predicted to result in premature termination of the protein. This variant has been reported in six studies and is found in a total of seven probands including four in a homozygous state and three in a compound heterozygous state (Morgan et al. 2006; Vogt et al. 2012; Robinson et al. 2013; Chong et al. 2015; Kariminejad et al. 2016; Bayram et al. 2016). The variant has been described in probands with both lethal multiple pterygium syndrome and non-lethal (Escobar) phenotypes. Control data are unavailable for this variant, but it is reported at a frequency of 0.00038 in the African population of the Exome Aggregation Consortium. Based on the evidence, the p.Val253AlafsTer44 variant is classified as pathogenic for CHRNG-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#	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

Last Updated: Jun 23, 2024

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