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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914910Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Pathogenic
(Oct 26, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024