NM_001724.5(BPGM):c.61del (p.Arg21fs) AND Deficiency of bisphosphoglycerate mutase

Clinical significance:Pathogenic (Last evaluated: Nov 15, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012873.6

Allele description [Variation Report for NM_001724.5(BPGM):c.61del (p.Arg21fs)]

NM_001724.5(BPGM):c.61del (p.Arg21fs)

Gene:
BPGM:bisphosphoglycerate mutase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q33
Genomic location:
Preferred name:
NM_001724.5(BPGM):c.61del (p.Arg21fs)
HGVS:
  • NC_000007.14:g.134661568del
  • NG_012921.1:g.19790del
  • NM_001293085.2:c.61del
  • NM_001724.5:c.61delMANE SELECT
  • NM_199186.3:c.61del
  • NP_001280014.1:p.Arg21fs
  • NP_001715.1:p.Arg21fs
  • NP_954655.1:p.Arg21fs
  • NC_000007.13:g.134346320del
  • NM_001724.4:c.61del
Note:
NCBI staff reviewed the sequence information reported in PubMed 1421379 Fig. 4B to determine the location of this allele on the current reference sequence.
Protein change:
R21fs
Links:
OMIM: 613896.0002; dbSNP: rs786205092
NCBI 1000 Genomes Browser:
rs786205092
Molecular consequence:
  • NM_001293085.2:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001724.5:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199186.3:c.61del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Deficiency of bisphosphoglycerate mutase (ECYT8)
Synonyms:
BPGM DEFICIENCY; DPGM DEFICIENCY; BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009113; MedGen: C1291620; OMIM: 222800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033114OMIMno assertion criteria providedPathogenic
(Nov 15, 1992)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

Lemarchandel V, Joulin V, Valentin C, Rosa R, Galactéros F, Rosa J, Cohen-Solal M.

Blood. 1992 Nov 15;80(10):2643-9.

PubMed [citation]
PMID:
1421379

Details of each submission

From OMIM, SCV000033114.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp deletion (205C or 206C) in the BPGM gene that was found in compound heterozygous state in patients with erythrocytosis due to bisphosphoglycerate mutase deficiency (ECYT8; 222800) by Lemarchandel et al. (1992), see 613896.0001.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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