chr4-54229321-CAG-C

Variant summary

Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1

The NM_006206.6(PDGFRA):​c.-104_-103del variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.223 in 398,236 control chromosomes in the GnomAD database, including 10,616 homozygotes. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.25 ( 5016 hom., cov: 23)
Exomes 𝑓: 0.21 ( 5600 hom. )

Consequence

PDGFRA
NM_006206.6 5_prime_UTR

Scores

Not classified

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:3

Conservation

PhyloP100: 1.80
Variant links:
Genes affected
PDGFRA (HGNC:8803): (platelet derived growth factor receptor alpha) This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -16 ACMG points.

BP6
Variant 4-54229321-CAG-C is Benign according to our data. Variant chr4-54229321-CAG-C is described in ClinVar as [Benign]. Clinvar id is 348893.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.322 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
PDGFRANM_006206.6 linkuse as main transcriptc.-104_-103del 5_prime_UTR_variant 1/23 ENST00000257290.10 NP_006197.1
PDGFRANM_001347827.2 linkuse as main transcriptc.-104_-103del 5_prime_UTR_variant 1/17 NP_001334756.1
PDGFRANM_001347828.2 linkuse as main transcriptc.-107_-106del 5_prime_UTR_variant 1/24 NP_001334757.1
PDGFRAXM_006714041.4 linkuse as main transcriptc.-107_-106del 5_prime_UTR_variant 1/18 XP_006714104.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PDGFRAENST00000257290.10 linkuse as main transcriptc.-104_-103del 5_prime_UTR_variant 1/231 NM_006206.6 ENSP00000257290 P1P16234-1

Frequencies

GnomAD3 genomes
AF:
0.248
AC:
37709
AN:
151816
Hom.:
5010
Cov.:
23
show subpopulations
Gnomad AFR
AF:
0.317
Gnomad AMI
AF:
0.146
Gnomad AMR
AF:
0.330
Gnomad ASJ
AF:
0.101
Gnomad EAS
AF:
0.197
Gnomad SAS
AF:
0.251
Gnomad FIN
AF:
0.207
Gnomad MID
AF:
0.142
Gnomad NFE
AF:
0.209
Gnomad OTH
AF:
0.218
GnomAD4 exome
AF:
0.207
AC:
50975
AN:
246302
Hom.:
5600
AF XY:
0.205
AC XY:
25563
AN XY:
124808
show subpopulations
Gnomad4 AFR exome
AF:
0.315
Gnomad4 AMR exome
AF:
0.362
Gnomad4 ASJ exome
AF:
0.106
Gnomad4 EAS exome
AF:
0.171
Gnomad4 SAS exome
AF:
0.257
Gnomad4 FIN exome
AF:
0.202
Gnomad4 NFE exome
AF:
0.205
Gnomad4 OTH exome
AF:
0.217
GnomAD4 genome
AF:
0.249
AC:
37760
AN:
151934
Hom.:
5016
Cov.:
23
AF XY:
0.248
AC XY:
18450
AN XY:
74268
show subpopulations
Gnomad4 AFR
AF:
0.317
Gnomad4 AMR
AF:
0.330
Gnomad4 ASJ
AF:
0.101
Gnomad4 EAS
AF:
0.198
Gnomad4 SAS
AF:
0.251
Gnomad4 FIN
AF:
0.207
Gnomad4 NFE
AF:
0.209
Gnomad4 OTH
AF:
0.216
Alfa
AF:
0.228
Hom.:
511
Bravo
AF:
0.262

ClinVar

Significance: Benign
Submissions summary: Benign:3
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

Idiopathic hypereosinophilic syndrome Benign:1
Benign, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -
not provided Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxJul 06, 2018- -
Gastrointestinal stromal tumor Benign:1
Benign, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1799767; hg19: chr4-55095488; API