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NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn) AND Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 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:
RCV001292813.3

Allele description [Variation Report for NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn)]

NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn)

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.2075G>A (p.Ser692Asn)
HGVS:
  • NC_000004.12:g.54278434G>A
  • NG_009250.1:g.54338G>A
  • NM_001347827.2:c.2075G>A
  • NM_001347828.2:c.2150G>A
  • NM_001347829.2:c.2075G>A
  • NM_001347830.2:c.2114G>A
  • NM_006206.6:c.2075G>AMANE SELECT
  • NP_001334756.1:p.Ser692Asn
  • NP_001334757.1:p.Ser717Asn
  • NP_001334758.1:p.Ser692Asn
  • NP_001334759.1:p.Ser705Asn
  • NP_006197.1:p.Ser692Asn
  • LRG_309t1:c.2075G>A
  • LRG_309:g.54338G>A
  • NC_000004.11:g.55144601G>A
  • NM_006206.4:c.2075G>A
  • NM_006206.5:c.2075G>A
Protein change:
S692N
Links:
dbSNP: rs371065167
NCBI 1000 Genomes Browser:
rs371065167
Molecular consequence:
  • NM_001347827.2:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347828.2:c.2150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347829.2:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347830.2:c.2114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006206.6:c.2075G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Identifiers:
MONDO: MONDO:0008285; MedGen: C5193005; OMIM: 175510

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481474Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 29, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481474.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024