NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter) AND Lethal multiple pterygium syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 20, 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:: RCV000576904.1

Allele description [Variation Report for NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)]

NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)

Genes:

CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
TIGD1:tigger transposable element derived 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)

HGVS:

NC_000002.12:g.232544541C>T
NG_012954.1:g.9815C>T
NG_012954.2:g.9850C>T
NM_005199.5:c.1210C>TMANE SELECT
NP_005190.4:p.Gln404Ter
LRG_1275t1:c.1210C>T
LRG_1275:g.9850C>T
LRG_1275p1:p.Gln404Ter
NC_000002.11:g.233409251C>T
NM_005199.4:c.1210C>T

Protein change:

Q404*

Links:

dbSNP: rs1553578312

NCBI 1000 Genomes Browser:

rs1553578312

Molecular consequence:

NM_005199.5:c.1210C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Lethal multiple pterygium syndrome (LMPS)
Identifiers:: MONDO: MONDO:0009668; MedGen: C1854678; Orphanet: 33108; OMIM: 253290

Recent activity

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MULTISPECIES: restriction endonuclease subunit S [Enterobacteriaceae]
MULTISPECIES: restriction endonuclease subunit S [Enterobacteriaceae]
gi|1221142942|ref|WP_089537718.1|

Protein
restriction endonuclease subunit S [Escherichia coli]
restriction endonuclease subunit S [Escherichia coli]
gi|2459907118|gnl|PRJNA727665|KG092 0|gb|WEP33393.1|

Protein
RPL18AP10 ribosomal protein L18a pseudogene 10 [Homo sapiens]
RPL18AP10 ribosomal protein L18a pseudogene 10 [Homo sapiens]
Gene ID:100271285

Gene
Erythromelalgia
Erythromelalgia
A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Er...<br/>

MeSH
Dissection, Blood Vessel
Dissection, Blood Vessel
A tear or separation of the layers by a blood vessel typically involving vessels under pressure, i.e., ARTERIES, e.g., AORTA. Tearing of the TUNICA INTIMA layer of a blood ves...<br/>Year introduced: 2023

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000676943	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 20, 2017)	uniparental	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

SCV000676943

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 20, 2017)

uniparental

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	uniparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000676943.1

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

Description

ACMG Criteria: PVS1, PM2, PP3

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

Last Updated: Apr 23, 2022

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