19-11377796-CA-CAA

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The NM_000121.4(EPOR):​c.*187dupT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000706 in 737,932 control chromosomes in the GnomAD database, including 2 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.00073 ( 1 hom., cov: 32)
Exomes 𝑓: 0.00070 ( 1 hom. )

Consequence

EPOR
NM_000121.4 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.786
Variant links:
Genes affected
EPOR (HGNC:3416): (erythropoietin receptor) This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2
High AC in GnomAd4 at 110 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
EPORNM_000121.4 linkc.*187dupT 3_prime_UTR_variant Exon 8 of 8 ENST00000222139.11 NP_000112.1 P19235-1
EPORNR_033663.2 linkn.2071dupT non_coding_transcript_exon_variant Exon 8 of 8

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
EPORENST00000222139 linkc.*187dupT 3_prime_UTR_variant Exon 8 of 8 1 NM_000121.4 ENSP00000222139.5 P19235-1
EPORENST00000588681.5 linkn.2099dupT non_coding_transcript_exon_variant Exon 8 of 8 1
EPORENST00000592375 linkc.*822dupT 3_prime_UTR_variant Exon 7 of 7 2 ENSP00000467809.2 P19235-3

Frequencies

GnomAD3 genomes
AF:
0.000730
AC:
110
AN:
150710
Hom.:
1
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00249
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000264
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000443
Gnomad OTH
AF:
0.000484
GnomAD3 exomes
AF:
0.000425
AC:
78
AN:
183728
Hom.:
0
AF XY:
0.000399
AC XY:
41
AN XY:
102708
show subpopulations
Gnomad AFR exome
AF:
0.00310
Gnomad AMR exome
AF:
0.000409
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.000447
Gnomad SAS exome
AF:
0.000152
Gnomad FIN exome
AF:
0.000206
Gnomad NFE exome
AF:
0.000222
Gnomad OTH exome
AF:
0.000805
GnomAD4 exome
AF:
0.000700
AC:
411
AN:
587106
Hom.:
1
Cov.:
6
AF XY:
0.000663
AC XY:
213
AN XY:
321230
show subpopulations
Gnomad4 AFR exome
AF:
0.00291
Gnomad4 AMR exome
AF:
0.000698
Gnomad4 ASJ exome
AF:
0.000296
Gnomad4 EAS exome
AF:
0.00102
Gnomad4 SAS exome
AF:
0.000226
Gnomad4 FIN exome
AF:
0.000824
Gnomad4 NFE exome
AF:
0.000662
Gnomad4 OTH exome
AF:
0.000833
GnomAD4 genome
AF:
0.000729
AC:
110
AN:
150826
Hom.:
1
Cov.:
32
AF XY:
0.000788
AC XY:
58
AN XY:
73592
show subpopulations
Gnomad4 AFR
AF:
0.00248
Gnomad4 AMR
AF:
0.000264
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000443
Gnomad4 OTH
AF:
0.000479
Bravo
AF:
0.000812

ClinVar

Not reported in ClinVar

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: rs528356712; hg19: chr19-11488472; API