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NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 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:
RCV001022920.5

Allele description [Variation Report for NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)]

NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)

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.46A>T (p.Thr16Ser)
HGVS:
  • NC_000004.12:g.54258814A>T
  • NG_009250.1:g.34718A>T
  • NM_001347827.2:c.46A>T
  • NM_001347828.2:c.121A>T
  • NM_001347829.2:c.46A>T
  • NM_001347830.2:c.85A>T
  • NM_006206.6:c.46A>TMANE SELECT
  • NP_001334756.1:p.Thr16Ser
  • NP_001334757.1:p.Thr41Ser
  • NP_001334758.1:p.Thr16Ser
  • NP_001334759.1:p.Thr29Ser
  • NP_006197.1:p.Thr16Ser
  • LRG_309t1:c.46A>T
  • LRG_309:g.34718A>T
  • NC_000004.11:g.55124981A>T
  • NM_006206.4:c.46A>T
Protein change:
T16S
Links:
dbSNP: rs587778596
NCBI 1000 Genomes Browser:
rs587778596
Molecular consequence:
  • NM_001347827.2:c.46A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347828.2:c.121A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347829.2:c.46A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347830.2:c.85A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006206.6:c.46A>T - 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
SCV001184716Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 2, 2019) 		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

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

Details of each submission

From Ambry Genetics, SCV001184716.4

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

Description

The p.T16S variant (also known as c.46A>T), located in coding exon 1 of the PDGFRA gene, results from an A to T substitution at nucleotide position 46. The threonine at codon 16 is replaced by serine, an amino acid with similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects. (Bodian DL et al. PLoS ONE. 2014 Apr;9:e94554). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 20, 2024