19-11377796-C-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.*187_*188insTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000987 in 739,942 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.000086 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00010 ( 0 hom. )
Consequence
EPOR
NM_000121.4 3_prime_UTR
NM_000121.4 3_prime_UTR
Scores
Not classified
Clinical Significance
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 13 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EPOR | NM_000121.4 | c.*187_*188insTT | 3_prime_UTR_variant | 8/8 | ENST00000222139.11 | NP_000112.1 | ||
EPOR | NR_033663.2 | n.2071_2072insTT | non_coding_transcript_exon_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPOR | ENST00000222139.11 | c.*187_*188insTT | 3_prime_UTR_variant | 8/8 | 1 | NM_000121.4 | ENSP00000222139 | P1 | ||
EPOR | ENST00000588681.5 | n.2099_2100insTT | non_coding_transcript_exon_variant | 8/8 | 1 | |||||
EPOR | ENST00000592375.6 | c.*822_*823insTT | 3_prime_UTR_variant | 7/7 | 2 | ENSP00000467809 |
Frequencies
GnomAD3 genomes AF: 0.0000863 AC: 13AN: 150710Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000120 AC: 22AN: 183728Hom.: 0 AF XY: 0.000136 AC XY: 14AN XY: 102708
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GnomAD4 exome AF: 0.000102 AC: 60AN: 589232Hom.: 0 Cov.: 6 AF XY: 0.000109 AC XY: 35AN XY: 322342
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GnomAD4 genome AF: 0.0000863 AC: 13AN: 150710Hom.: 0 Cov.: 32 AF XY: 0.0000953 AC XY: 7AN XY: 73466
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Familial erythrocytosis Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at