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NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 29, 2024
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:
RCV004943802.1

Allele description [Variation Report for NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His)]

NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His)

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.2942G>A (p.Arg981His)
HGVS:
  • NC_000004.12:g.54290374G>A
  • NG_009250.1:g.66278G>A
  • NM_001347828.2:c.3017G>A
  • NM_001347829.2:c.2942G>A
  • NM_001347830.2:c.2981G>A
  • NM_006206.5:c.2942G>A
  • NM_006206.6:c.2942G>AMANE SELECT
  • NP_001334757.1:p.Arg1006His
  • NP_001334758.1:p.Arg981His
  • NP_001334759.1:p.Arg994His
  • NP_006197.1:p.Arg981His
  • LRG_309t1:c.2942G>A
  • LRG_309:g.66278G>A
  • NC_000004.11:g.55156541G>A
  • NM_006206.4:c.2942G>A
  • NM_006206.6:c.2942G>A
Protein change:
R1006H
Links:
dbSNP: rs368266633
NCBI 1000 Genomes Browser:
rs368266633
Molecular consequence:
  • NM_001347828.2:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347829.2:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347830.2:c.2981G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006206.6:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005470978Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 29, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.

Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769.

PubMed [citation]
PMID:
30093976
PMCID:
PMC6078133

Details of each submission

From Ambry Genetics, SCV005470978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Mar 16, 2025