NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) AND Primary familial polycythemia due to EPO receptor mutation

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000258849.10

Allele description [Variation Report for NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)]

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

Gene:

EPOR:erythropoietin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

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

HGVS:

NC_000019.10:g.11378195C>T
NG_021395.1:g.11148G>A
NM_000121.4:c.1316G>AMANE SELECT
NP_000112.1:p.Trp439Ter
NC_000019.9:g.11488871C>T
NM_000121.3:c.1316G>A
NR_033663.2:n.1673G>A

Protein change:

W439*

Links:

dbSNP: rs121917830

Molecular consequence:

NR_033663.2:n.1673G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000121.4:c.1316G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Primary familial polycythemia due to EPO receptor mutation
Synonyms:: POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; ERYTHROCYTOSIS, SOMATIC; Primary Familial Congenital Polycythemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007572; MedGen: C4551637; Orphanet: 90042; OMIM: 133100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328592	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8506290, 17488692

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328592

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.

de la Chapelle A, Träskelin AL, Juvonen E.

Proc Natl Acad Sci U S A. 1993 May 15;90(10):4495-9.

PubMed [citation]

PMID:: 8506290
PMCID:: PMC46538

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Rives S, Pahl HL, Florensa L, Bellosillo B, Neusuess A, Estella J, Debatin KM, Kohne E, Schwarz K, Cario H.

Haematologica. 2007 May;92(5):674-7.

PubMed [citation]

PMID:: 17488692

Details of each submission

From GeneReviews, SCV000328592.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 5, 2026

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