NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) AND Squamous cell lung carcinoma

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 5, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001250951.1

Allele description

NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)

Gene:

PDGFRA:platelet derived growth factor receptor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)

HGVS:

NC_000004.12:g.54274888A>G
NG_009250.1:g.50792A>G
NM_001347827.2:c.1701A>G
NM_001347828.2:c.1776A>G
NM_001347829.2:c.1701A>G
NM_001347830.2:c.1740A>G
NM_006206.6:c.1701A>GMANE SELECT
NP_001334756.1:p.Pro567=
NP_001334757.1:p.Pro592=
NP_001334758.1:p.Pro567=
NP_001334759.1:p.Pro580=
NP_006197.1:p.Pro567=
LRG_309t1:c.1701A>G
LRG_309:g.50792A>G
NC_000004.11:g.55141055A>G
NM_006206.4:c.1701A>G
p.Pro567Pro

Links:

dbSNP: rs1873778

NCBI 1000 Genomes Browser:

rs1873778

Molecular consequence:

NM_001347827.2:c.1701A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347828.2:c.1776A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347829.2:c.1701A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001347830.2:c.1740A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_006206.6:c.1701A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Name:: Squamous cell lung carcinoma
Synonyms:: Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
Identifiers:: MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001250934	Faculté Pluridciplinaire Nador, Université Mohamed Premier	no assertion criteria provided	Likely benign (May 5, 2020)	somatic	clinical testing, in vivo

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001250934

Faculté Pluridciplinaire Nador, Université Mohamed Premier

no assertion criteria provided

Likely benign
(May 5, 2020)

somatic

clinical testing, in vivo

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	in vivo, clinical testing

Details of each submission

From Faculté Pluridciplinaire Nador, Université Mohamed Premier, SCV001250934.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	somatic	yes	not provided	Liver metastasis Tumor	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

ClinVar

Relating variation to medicine