NM_005199.5(CHRNG):c.753_754del (p.Val253fs) AND Autosomal recessive multiple pterygium syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 28, 2019
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:: RCV000201795.7

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:: Autosomal recessive multiple pterygium syndrome
Synonyms:: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Multiple pterygium syndrome Escobar type; Multiple pterygium syndrome nonlethal type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009926; MedGen: C0265261; Orphanet: 2990; OMIM: 265000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256538	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2015)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16826531, 25608830
SCV001167471	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]
SCV001368372	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 28, 2019)	unknown	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

SCV000256538

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2015)

germline

literature only

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

SCV001167471

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Pathogenic

inherited

research

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

SCV001368372

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 28, 2019)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	yes	12	4	not provided	not provided	yes	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB.

J Hum Genet. 2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2. Epub 2015 Jan 22.

PubMed [citation]

PMID:: 25608830

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000256538.1

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

Description

In a Turkish family with parental consanguinity, Morgan et al. (2006) demonstrated that the lethal form of multiple pterygium syndrome (LMPS; 253290) was caused by a deletion mutation in exon 7 of the CHRNG gene, 753_754delCT (Pro251ProfsTer46).

For discussion of the 2-bp deletion in the CHRNG gene that was found in compound heterozygous state in patients with Escobar syndrome (EVMPS; 265000) by Seo et al. (2015), see 100730.0009.

#	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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167471.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	12	not provided	yes	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		12	not provided	4	not provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001368372.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.

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

Last Updated: Jun 23, 2024

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