NM_005199.5(CHRNG):c.753_754del (p.Val253fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 6, 2016
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:: RCV000622703.3

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]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741891	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Dec 6, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741891

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Dec 6, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian/Pakistani	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741891.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian/Pakistani	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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