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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038346OMIM
no assertion criteria provided
Affects
(Sep 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024