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NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 14, 2018)
Last evaluated:
Mar 16, 2018
Accession:
VCV000619973.2
Variation ID:
619973
Description:
single nucleotide variant
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NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)

Allele ID
611368
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.12
Genomic location
12: 111447491 (GRCh38) GRCh38 UCSC
12: 111885295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_864:g.157186C>T
LRG_621:g.46544G>A
LRG_621t2:c.577G>A LRG_621p2:p.Glu193Lys
... more HGVS
Protein change
E193K, E395K
Other names
-
Canonical SPDI
NC_000012.12:111447490:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00015
Links
dbSNP: rs148636776
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 16, 2018 RCV000760174.2
Pathogenic 1 criteria provided, single submitter Mar 16, 2018 RCV000760171.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SH2B3 - - GRCh38
GRCh37
32 43

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 16, 2018)
criteria provided, single submitter
Method: research, in vitro
Thrombocythemia 1
(Autosomal dominant inheritance)
Allele origin: germline
Center for Precision Medicine,Vanderbilt University Medical Center
Accession: SCV000889996.1
Submitted: (Jun 14, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Mar 16, 2018)
criteria provided, single submitter
Method: research, in vitro
Primary familial polycythemia due to EPO receptor mutation
(Autosomal dominant inheritance)
Allele origin: germline
Center for Precision Medicine,Vanderbilt University Medical Center
Accession: SCV000889990.1
Submitted: (Jun 14, 2018)
Evidence details
Publications
PubMed (1)

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
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Bastarache L Science (New York, N.Y.) 2018 PMID: 29590070
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. Maslah N Leukemia 2017 PMID: 28484264
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. Camps C Haematologica 2016 PMID: 27651169
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. Tong W Blood 2005 PMID: 15705783

Text-mined citations for rs148636776...

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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 24, 2021