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NM_001724.5(BPGM):c.269G>A (p.Arg90His)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 17, 2020)
Last evaluated:
Nov 15, 1992
Accession:
VCV000973178.1
Variation ID:
973178
Description:
single nucleotide variant
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NM_001724.5(BPGM):c.269G>A (p.Arg90His)

Allele ID
961562
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q33
Genomic location
7: 134661776 (GRCh38) GRCh38 UCSC
7: 134346528 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.134346528G>A
NC_000007.14:g.134661776G>A
NG_012921.1:g.19998G>A
... more HGVS
Protein change
R90H
Other names
-
Canonical SPDI
NC_000007.14:134661775:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
OMIM: 613896.0004
dbSNP: rs781222092
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 15, 1992 RCV001249568.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BPGM - - GRCh38
GRCh37
5 37

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 15, 1992)
no assertion criteria provided
Method: literature only
ERYTHROCYTOSIS, FAMILIAL, 8
Allele origin: germline
OMIM
Accession: SCV001423537.1
Submitted: (Jul 17, 2020)
Evidence details
Publications
PubMed (2)

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
Erythrocytosis associated with a novel missense mutation in the BPGM gene. Petousi N Haematologica 2014 PMID: 25015942
Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. Lemarchandel V Blood 1992 PMID: 1421379

Text-mined citations for rs781222092...

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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 Nov 27, 2021