NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 14, 2023
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:: RCV003565569.2

Allele description [Variation Report for NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)]

NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)

HGVS:

NC_000002.12:g.232540653_232540661dup
NG_012954.2:g.5962_5970dup
NM_005199.5:c.292_300dupMANE SELECT
NP_005190.4:p.Leu100_Arg101insTrpValLeu
LRG_1275t1:c.292_300dup
LRG_1275:g.5962_5970dup
LRG_1275p1:p.Leu100_Arg101insTrpValLeu
NC_000002.11:g.233405359_233405360insCTGTGGGTG
NC_000002.11:g.233405363_233405371dup

Molecular consequence:

NM_005199.5:c.292_300dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004327627	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jul 14, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16826520, 30868735, 34440395, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004327627

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jul 14, 2023)

germline

clinical testing

PubMed (4)
[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

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Review.

PubMed [citation]

PMID:: 30868735

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004327627.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1804084). This variant is also known as 300dup(9), 78dup(3), p.98dup(3)WVL. This variant has been observed in individual(s) with Escobar syndrome and/or multiple pterygium syndrome (PMID: 16826520, 30868735, 34440395). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant, c.292_300dup, results in the insertion of 3 amino acid(s) of the CHRNG protein (p.Trp98_Leu100dup), but otherwise preserves the integrity of the reading frame.

#	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

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