NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 18, 2024
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:: RCV001381627.7

Allele description [Variation Report for NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)]

NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)

Other names:

p.Arg68Ter

HGVS:

NC_000002.12:g.232540387C>T
NG_012954.2:g.5696C>T
NM_005199.5:c.202C>TMANE SELECT
NP_005190.4:p.Arg68Ter
LRG_1275t1:c.202C>T
LRG_1275:g.5696C>T
LRG_1275p1:p.Arg68Ter
NC_000002.11:g.233405097C>T
NG_012954.1:g.5661C>T
NM_005199.4:c.202C>T

Protein change:

R68*

Links:

dbSNP: rs764266722

NCBI 1000 Genomes Browser:

rs764266722

Molecular consequence:

NM_005199.5:c.202C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001580107	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 18, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16826520, 22167768, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001580107

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 18, 2024)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

PubMed [citation]

PMID:: 16826520
PMCID:: PMC1559482

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER.

J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378.

PubMed [citation]

PMID:: 22167768

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001580107.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg68*) in the CHRNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNG are known to be pathogenic (PMID: 16826520). This variant is present in population databases (rs764266722, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with multiple pteygium syndrome (PMID: 22167768). ClinVar contains an entry for this variant (Variation ID: 548021). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine