VCV000133374.7 - ClinVar

NM_006206.6(PDGFRA):c.2323+1120C>T

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(4)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Conflicting classifications of pathogenicity
Likely pathogenic(1); Likely benign(1)

criteria provided, conflicting classifications

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_006206.6(PDGFRA):c.2323+1120C>T

Variation ID: 133374 Accession: VCV000133374.7

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 4q12 4: 54281602 (GRCh38) [ NCBI UCSC ] 4: 55147769 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 9, 2014	Oct 8, 2024	Mar 27, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_006206.6:c.2323+1120C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_001347827.1:c.2345C>T
NM_001347827.2:c.2345C>T	NP_001334756.1:p.Thr782Met	missense
NM_001347828.2:c.2398+1120C>T		intron variant
NM_001347829.2:c.2323+1120C>T		intron variant
NM_001347830.2:c.2362+1120C>T		intron variant
NC_000004.12:g.54281602C>T
NC_000004.11:g.55147769C>T
NG_009250.1:g.57506C>T
LRG_309:g.57506C>T

... more HGVS ... less HGVS

Protein change

T782M

Other names

Canonical SPDI

NC_000004.12:54281601:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.06589 (T)

Allele frequency Help The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.05806

1000 Genomes Project 0.06589

1000 Genomes Project 30x 0.06590

The Genome Aggregation Database (gnomAD), exomes 0.07246

Trans-Omics for Precision Medicine (TOPMed) 0.08497

The Genome Aggregation Database (gnomAD) 0.08547

Links

ClinGen: CA156465 dbSNP: rs2291591 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
LOC126807054	-	-	-	GRCh38	-	18
PDGFRA		-	-	GRCh38 GRCh37	3266	3304

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not specified	not provided (1)	no classification provided	Sep 19, 2013	RCV000119875.1
Myeloproliferative neoplasm, unclassifiable	Likely pathogenic (1)	criteria provided, single submitter	Aug 25, 2022	RCV002284188.2
Hereditary cancer	Likely benign (1)	criteria provided, single submitter	Mar 27, 2024	RCV003492515.2
PDGFRA-related disorder	Benign (1)	no assertion criteria provided	Sep 25, 2024	RCV003975066.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Aug 25, 2022)	criteria provided, single submitter (Oncogenicity SOP (ClinGen, CGC, VICC guidelines) 2022) Method: clinical testing	Myeloproliferative neoplasm, unclassifiable Affected status: yes Allele origin: somatic	Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology Accession: SCV002573654.1 First in ClinVar: Sep 24, 2022 Last updated: Sep 24, 2022	Number of individuals with the variant: 2
Likely benign (Mar 27, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer Affected status: unknown Allele origin: unknown	Mendelics Accession: SCV004232566.2 First in ClinVar: Feb 04, 2024 Last updated: Mar 30, 2024
Benign (Sep 25, 2024)	no assertion criteria provided Method: clinical testing	PDGFRA-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004797831.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
not provided (Sep 19, 2013)	no classification provided Method: reference population	AllHighlyPenetrant Affected status: unknown Allele origin: germline	ITMI Accession: SCV000084005.1 First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014 Comment: Please see associated publication for description of ethnicities	Publications: PubMed (1) PubMed: 24728327 Observation 1: Ethnicity/Population group: Whole_cohort Observation 2: Ethnicity/Population group: African Observation 3: Ethnicity/Population group: African_European Observation 4: Ethnicity/Population group: Central_Asian Observation 5: Ethnicity/Population group: East_Asian Observation 6: Ethnicity/Population group: European Observation 7: Ethnicity/Population group: Hispanic

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2291591 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 13, 2024

ClinVar Genomic variation as it relates to human health

NM_006206.6(PDGFRA):c.2323+1120C>T

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs2291591 ...