NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) AND Primary familial polycythemia due to EPO receptor mutation

Clinical significance:Pathogenic (Last evaluated: Mar 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760171.2

Allele description [Variation Report for NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys)]

NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys)

Gene:
SH2B3:SH2B adaptor protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.12
Genomic location:
Preferred name:
NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys)
HGVS:
  • NC_000012.12:g.111447491G>A
  • NG_021216.1:g.46544G>A
  • NM_001291424.1:c.577G>A
  • NM_005475.2:c.1183G>A
  • NP_001278353.1:p.Glu193Lys
  • NP_005466.1:p.Glu395Lys
  • LRG_621t1:c.1183G>A
  • LRG_621t2:c.577G>A
  • LRG_621:g.46544G>A
  • LRG_621p1:p.Glu395Lys
  • LRG_621p2:p.Glu193Lys
  • NC_000012.11:g.111885295G>A
Protein change:
E193K
Links:
dbSNP: rs148636776
NCBI 1000 Genomes Browser:
rs148636776
Molecular consequence:
  • NM_001291424.1:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005475.2:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary familial polycythemia due to EPO receptor mutation
Synonyms:
Familial erythrocytosis, 1; Polycythemia, primary familial and congenital; Erythrocytosis autosomal dominant benign; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007572; MedGen: C4551637; Orphanet: 90042; OMIM: 133100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000889990Center for Precision Medicine,Vanderbilt University Medical Centercriteria provided, single submitter
Pathogenic
(Mar 16, 2018)
germlineresearch, in vitro

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown22not providednot providednot providednot providedresearch, in vitro

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Camps C, Petousi N, Bento C, Cario H, Copley RR, McMullin MF, van Wijk R, Ratcliffe PJ, Robbins PA, Taylor JC; WGS500 Consortium..

Haematologica. 2016 Nov;101(11):1306-1318. Epub 2016 Sep 20.

PubMed [citation]
PMID:
27651169
PMCID:
PMC5394871
See all PubMed Citations (5)

Details of each submission

From Center for Precision Medicine,Vanderbilt University Medical Center, SCV000889990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided22not providednot providedresearch PubMed (5)
2not providednot providednot providednot providedin vitro PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot provideddiscovery22not providednot providednot provided
2germlineunknownnot providednot provideddiscoverynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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