19-11377796-CA-CAA
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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
NM_000121.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.786
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]
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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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPOR | ENST00000222139 | c.*187dupT | 3_prime_UTR_variant | Exon 8 of 8 | 1 | NM_000121.4 | ENSP00000222139.5 | |||
EPOR | ENST00000588681.5 | n.2099dupT | non_coding_transcript_exon_variant | Exon 8 of 8 | 1 | |||||
EPOR | ENST00000592375 | c.*822dupT | 3_prime_UTR_variant | Exon 7 of 7 | 2 | ENSP00000467809.2 |
Frequencies
GnomAD3 genomes AF: 0.000730 AC: 110AN: 150710Hom.: 1 Cov.: 32
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GnomAD3 exomes AF: 0.000425 AC: 78AN: 183728Hom.: 0 AF XY: 0.000399 AC XY: 41AN XY: 102708
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GnomAD4 exome AF: 0.000700 AC: 411AN: 587106Hom.: 1 Cov.: 6 AF XY: 0.000663 AC XY: 213AN XY: 321230
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GnomAD4 genome AF: 0.000729 AC: 110AN: 150826Hom.: 1 Cov.: 32 AF XY: 0.000788 AC XY: 58AN XY: 73592
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Not reported inComputational scores
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at