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NM_022051.2(EGLN1):c.471G>C (p.Gln157His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 28, 2017
Accession:
VCV000241417.1
Variation ID:
241417
Description:
single nucleotide variant
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NM_022051.2(EGLN1):c.471G>C (p.Gln157His)

Allele ID
238220
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q42.2
Genomic location
1: 231421418 (GRCh38) GRCh38 UCSC
1: 231557164 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.231557164C>G
NC_000001.11:g.231421418C>G
NM_022051.2:c.471G>C NP_071334.1:p.Gln157His missense
NG_015865.1:g.8627G>C
Protein change
Q157H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00659 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01609
The Genome Aggregation Database (gnomAD) 0.02251
1000 Genomes Project 0.00659
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01570
Links
dbSNP: rs61750991
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 28, 2017 RCV000227398.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000388275.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGLN1 - - GRCh38
GRCh37
140 166

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Erythrocytosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000355516.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Benign
(Jul 28, 2017)
criteria provided, single submitter
Method: clinical testing
Erythrocytosis, familial, 3
Allele origin: germline
Invitae
Accession: SCV000290634.3
Submitted: (Oct 05, 2017)
Evidence details

Citations for this variant

Title Author Journal Year Link
Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation. Albiero E British journal of haematology 2011 PMID: 21275967

Record last updated Aug 30, 2019