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NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 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:
RCV004028952.1

Allele description [Variation Report for NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr)]

NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr)

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.2234T>C (p.Met745Thr)
HGVS:
  • NC_000004.12:g.54280393T>C
  • NG_009250.1:g.56297T>C
  • NM_001347827.2:c.2234T>C
  • NM_001347828.2:c.2309T>C
  • NM_001347829.2:c.2234T>C
  • NM_001347830.2:c.2273T>C
  • NM_006206.6:c.2234T>CMANE SELECT
  • NP_001334756.1:p.Met745Thr
  • NP_001334757.1:p.Met770Thr
  • NP_001334758.1:p.Met745Thr
  • NP_001334759.1:p.Met758Thr
  • NP_006197.1:p.Met745Thr
  • LRG_309t1:c.2234T>C
  • LRG_309:g.56297T>C
  • NC_000004.11:g.55146560T>C
  • NM_006206.4:c.2234T>C
Protein change:
M745T
Links:
dbSNP: rs1368223217
NCBI 1000 Genomes Browser:
rs1368223217
Molecular consequence:
  • NM_001347827.2:c.2234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347828.2:c.2309T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347829.2:c.2234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347830.2:c.2273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006206.6:c.2234T>C - 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
SCV005024456Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 26, 2024) 		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, SCV005024456.1

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

Description

The p.M745T variant (also known as c.2234T>C), located in coding exon 15 of the PDGFRA gene, results from a T to C substitution at nucleotide position 2234. The methionine at codon 745 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024