Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: May 26, 2021)
Last evaluated:
Mar 11, 2021
Accession:
VCV000767707.5
Variation ID:
767707
Description:
single nucleotide variant
Help

NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)

Allele ID
696141
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155294618 (GRCh38) GRCh38 UCSC
1: 155264409 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.155264409C>T
NC_000001.11:g.155294618C>T
NM_000298.6:c.829G>A MANE Select NP_000289.1:p.Glu277Lys missense
... more HGVS
Protein change
E246K, E277K
Other names
-
Canonical SPDI
NC_000001.11:155294617:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00069
The Genome Aggregation Database (gnomAD) 0.00217
Trans-Omics for Precision Medicine (TOPMed) 0.00306
1000 Genomes Project 0.00260
Exome Aggregation Consortium (ExAC) 0.00075
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00238
Links
dbSNP: rs147689373
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 6, 2019 RCV001001692.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001097711.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 11, 2021 RCV000946502.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKLR - - GRCh38
GRCh38
GRCh37
127 150

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001092644.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Mar 06, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159263.1
Submitted: (Aug 05, 2019)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pyruvate kinase deficiency of red cells
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001254014.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Mar 11, 2021)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715316.1
Submitted: (May 26, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551809.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The PKLR p.Glu246Lys variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. Machado P PloS one 2012 PMID: 23082140
Genetic diversity in human erythrocyte pyruvate kinase. Berghout J Genes and immunity 2012 PMID: 21833022

Text-mined citations for rs147689373...

Help
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 Jun 14, 2021