NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 15, 2019
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:: RCV002334725.2

Allele description [Variation Report for NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)]

NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)

Gene:

CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)

HGVS:

NC_000020.11:g.63350905G>A
NG_011931.1:g.15439C>T
NM_000744.7:c.506C>TMANE SELECT
NM_001256573.2:c.-23C>T
NP_000735.1:p.Pro169Leu
NC_000020.10:g.61982257G>A
NM_000744.5:c.506C>T
NR_046317.2:n.715C>T

Protein change:

P169L

Links:

dbSNP: rs199519224

NCBI 1000 Genomes Browser:

rs199519224

Molecular consequence:

NM_001256573.2:c.-23C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000744.7:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_046317.2:n.715C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002642781	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002642781

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 15, 2019)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV002642781.2

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

Description

The p.P169L variant (also known as c.506C>T), located in coding exon 5 of the CHRNA4 gene, results from a C to T substitution at nucleotide position 506. The proline at codon 169 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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