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NM_022051.2(EGLN1):c.1272C>T (p.Asp424=)

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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:
May 3, 2017
Accession:
VCV000296183.1
Variation ID:
296183
Description:
single nucleotide variant
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NM_022051.2(EGLN1):c.1272C>T (p.Asp424=)

Allele ID
279541
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q42.2
Genomic location
1: 231366420 (GRCh38) GRCh38 UCSC
1: 231502166 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.231366420G>A
NC_000001.10:g.231502166G>A
NM_022051.2:c.1272C>T NP_071334.1:p.Asp424= synonymous
NG_015865.1:g.63625C>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00047
Exome Aggregation Consortium (ExAC) 0.00059
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00169
The Genome Aggregation Database (gnomAD) 0.00197
Trans-Omics for Precision Medicine (TOPMed) 0.00214
1000 Genomes Project 0.00260
Links
dbSNP: rs61734647
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000362339.1
Benign 1 criteria provided, single submitter May 3, 2017 RCV000459534.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGLN1 - - GRCh38
GRCh37
136 161

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: SCV000355507.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
Erythrocytosis, familial, 3
Allele origin: germline
Invitae
Accession: SCV000557988.2
Submitted: (Oct 05, 2017)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 29, 2019