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NM_006206.6(PDGFRA):c.628+4C>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 2019
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:
RCV001025077.3

Allele description [Variation Report for NM_006206.6(PDGFRA):c.628+4C>T]

NM_006206.6(PDGFRA):c.628+4C>T

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.628+4C>T
HGVS:
  • NC_000004.12:g.54263931C>T
  • NG_009250.1:g.39835C>T
  • NM_001347827.2:c.628+4C>T
  • NM_001347828.2:c.703+4C>T
  • NM_001347829.2:c.628+4C>T
  • NM_001347830.2:c.667+4C>T
  • NM_006206.6:c.628+4C>TMANE SELECT
  • LRG_309t1:c.628+4C>T
  • LRG_309:g.39835C>T
  • NC_000004.11:g.55130098C>T
  • NM_006206.4:c.628+4C>T
Links:
dbSNP: rs368210930
NCBI 1000 Genomes Browser:
rs368210930
Molecular consequence:
  • NM_001347827.2:c.628+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347828.2:c.703+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347829.2:c.628+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347830.2:c.667+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006206.6:c.628+4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV001187199Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 16, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001187199.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.628+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 3 in the PDGFRA gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to weaken the efficiency of the native splice donor site, but is not predicted to have a deleterious effect on this splice donor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024