NM_000121.4(EPOR):c.1281dup (p.Ile428fs) AND Primary familial polycythemia due to EPO receptor mutation

Germline classification:: Affects (1 submission)
Last evaluated:: Sep 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000018067.29

Allele description [Variation Report for NM_000121.4(EPOR):c.1281dup (p.Ile428fs)]

NM_000121.4(EPOR):c.1281dup (p.Ile428fs)

Gene:

EPOR:erythropoietin receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000121.4(EPOR):c.1281dup (p.Ile428fs)

HGVS:

NC_000019.10:g.11378230dup
NG_021395.1:g.11113dup
NM_000121.4:c.1281dupMANE SELECT
NP_000112.1:p.Ile428fs
NC_000019.9:g.11488906dup
NR_033663.2:n.1638dup

Protein change:

I428fs

Links:

OMIM: 133171.0005; dbSNP: rs1555716047

NCBI 1000 Genomes Browser:

rs1555716047

Molecular consequence:

NM_000121.4:c.1281dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_033663.2:n.1638dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Primary familial polycythemia due to EPO receptor mutation
Synonyms:: Polycythemia, primary familial and congenital; Erythrocytosis autosomal dominant benign; ERYTHROCYTOSIS, SOMATIC; 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
SCV000038346	OMIM	no assertion criteria provided	Affects (Sep 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038346

OMIM

no assertion criteria provided

Affects
(Sep 1, 1997)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.

Kralovics R, Indrak K, Stopka T, Berman BW, Prchal JF, Prchal JT.

Blood. 1997 Sep 1;90(5):2057-61.

PubMed [citation]

PMID:: 9292543

Details of each submission

From OMIM, SCV000038346.2

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

Description

In affected members of a Caucasian family from the Czech Republic with autosomal dominant benign erythrocytosis (ECYT1; 133100), Kralovics et al. (1997) identified a 1-bp insertion (5967insT) in the EPOR gene.

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

Last Updated: Oct 8, 2024

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