NM_005199.5(CHRNG):c.753_754del (p.Val253fs) AND Abnormality of prenatal development or birth

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001814005.2

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]

Condition(s)

Name:: Abnormality of prenatal development or birth
Identifiers:: MedGen: C4025797; Human Phenotype Ontology: HP:0001197

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755631	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 10, 2021)	germline	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

SCV001755631

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 10, 2021)

germline

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	germline	yes	not provided	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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755631.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Sep 29, 2024

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