NM_005199.5(CHRNG):c.55+5G>A AND Autosomal recessive multiple pterygium syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 15, 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:: RCV003234968.1

Allele description [Variation Report for NM_005199.5(CHRNG):c.55+5G>A]

NM_005199.5(CHRNG):c.55+5G>A

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.55+5G>A

HGVS:

NC_000002.12:g.232539807G>A
NG_012954.2:g.5116G>A
NM_005199.5:c.55+5G>AMANE SELECT
LRG_1275t1:c.55+5G>A
LRG_1275:g.5116G>A
NC_000002.11:g.233404517G>A
NM_005199.4:c.55+5G>A

Molecular consequence:

NM_005199.5:c.55+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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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hypothetical protein, partial [Picea purpurea]
hypothetical protein, partial [Picea purpurea]
gi|289471979|gb|ADC97299.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003934909	Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 15, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003934909

Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 15, 2023)

germline

research

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
Asian Indian	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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 Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences, SCV003934909.1

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

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

Last Updated: Jun 24, 2023

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