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NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 2, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000268131.2
Variation ID:
268131
Description:
single nucleotide variant
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NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)

Allele ID
263757
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11378195 (GRCh38) GRCh38 UCSC
19: 11488871 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11378195C>T
NC_000019.9:g.11488871C>T
NG_021395.1:g.11148G>A
... more HGVS
Protein change
W439*
Other names
-
Canonical SPDI
NC_000019.10:11378194:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10602669
dbSNP: rs121917830
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 1, 2020 RCV001293750.1
Pathogenic 1 no assertion criteria provided Jun 28, 2016 RCV000258849.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EPOR - - GRCh38
GRCh37
71 87

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Acute megakaryoblastic leukemia without down syndrome
Allele origin: somatic
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV001480503.1
Submitted: (Feb 02, 2021)
Evidence details
Pathogenic
(Jun 28, 2016)
no assertion criteria provided
Method: literature only
Primary familial polycythemia due to EPO receptor mutation
Allele origin: germline
GeneReviews
Accession: SCV000328592.1
Submitted: (Nov 14, 2016)
Evidence details
Publications
PubMed (2)
Other databases
https://www.ncbi.nlm.nih.gov/boo…

Functional evidence

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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 this variant

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Title Author Journal Year Link
Primary Familial and Congenital Polycythemia Bento C - 2016 PMID: 27831681
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. Rives S Haematologica 2007 PMID: 17488692
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. de la Chapelle A Proceedings of the National Academy of Sciences of the United States of America 1993 PMID: 8506290
https://www.ncbi.nlm.nih.gov/books/NBK395975/ - - - -

Text-mined citations for rs121917830...

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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 16, 2021