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NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) AND PDGFRA-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 19, 2024
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:
RCV003970282.2

Allele description [Variation Report for NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)]

NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)

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.1274A>G (p.His425Arg)
HGVS:
  • NC_000004.12:g.54272430A>G
  • NG_009250.1:g.48334A>G
  • NM_001347827.2:c.1274A>G
  • NM_001347828.2:c.1349A>G
  • NM_001347829.2:c.1274A>G
  • NM_001347830.2:c.1313A>G
  • NM_006206.6:c.1274A>GMANE SELECT
  • NP_001334756.1:p.His425Arg
  • NP_001334757.1:p.His450Arg
  • NP_001334758.1:p.His425Arg
  • NP_001334759.1:p.His438Arg
  • NP_006197.1:p.His425Arg
  • LRG_309t1:c.1274A>G
  • LRG_309:g.48334A>G
  • NC_000004.11:g.55138597A>G
  • NM_006206.4:c.1274A>G
  • NM_006206.5:c.1274A>G
Protein change:
H425R
Links:
dbSNP: rs769631321
NCBI 1000 Genomes Browser:
rs769631321
Molecular consequence:
  • NM_001347827.2:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347828.2:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347829.2:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347830.2:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006206.6:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PDGFRA-related disorder
Synonyms:
PDGFRA-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004785882PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 19, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004785882.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PDGFRA c.1274A>G variant is predicted to result in the amino acid substitution p.His425Arg. The p.His425Arg variant was reported in a blood sample of an individual with mixed neuroendocrine non-neuroendocrine neoplasms of the gastrointestinal tract (case 3, Guerrera et al. 2022. PubMed ID: 35455885). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/407410/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024