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NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 10, 2022
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:
RCV003168531.2

Allele description [Variation Report for NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)]

NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)

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.219T>C (p.Asn73=)
HGVS:
  • NC_000004.12:g.54261264T>C
  • NG_009250.1:g.37168T>C
  • NM_001347827.2:c.219T>C
  • NM_001347828.2:c.294T>C
  • NM_001347829.2:c.219T>C
  • NM_001347830.2:c.258T>C
  • NM_006206.6:c.219T>CMANE SELECT
  • NP_001334756.1:p.Asn73=
  • NP_001334757.1:p.Asn98=
  • NP_001334758.1:p.Asn73=
  • NP_001334759.1:p.Asn86=
  • NP_006197.1:p.Asn73=
  • LRG_309t1:c.219T>C
  • LRG_309:g.37168T>C
  • NC_000004.11:g.55127431T>C
  • NM_006206.4:c.219T>C
Links:
dbSNP: rs886059443
NCBI 1000 Genomes Browser:
rs886059443
Molecular consequence:
  • NM_001347827.2:c.219T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347828.2:c.294T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347829.2:c.219T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347830.2:c.258T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006206.6:c.219T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003912523Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Nov 10, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003912523.1

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

Description

This alteration is classified as likely benign based on a combination of the following: 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: Apr 15, 2024