NM_000291.4(PGK1):c.491A>T (p.Asp164Val) AND Phosphoglycerate kinase 1 deficiency

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2006)

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:
RCV000010632.4

Allele description [Variation Report for NM_000291.4(PGK1):c.491A>T (p.Asp164Val)]

NM_000291.4(PGK1):c.491A>T (p.Asp164Val)

Gene:
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000291.4(PGK1):c.491A>T (p.Asp164Val)
Other names:
PGK Amiens
HGVS:
  • NC_000023.11:g.78117385A>T
  • NG_008862.1:g.18217A>T
  • NM_000291.4:c.491A>TMANE SELECT
  • NP_000282.1:p.Asp164Val
  • NC_000023.10:g.77372882A>T
  • P00558:p.Asp164Val
Protein change:
D164V; ASP164VAL
Links:
UniProtKB: P00558#VAR_006078; OMIM: 311800.0013; dbSNP: rs137852538
NCBI 1000 Genomes Browser:
rs137852538
Molecular consequence:
  • NM_000291.4:c.491A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phosphoglycerate kinase 1 deficiency
Synonyms:
PGK1 DEFICIENCY
Identifiers:
MONDO: MONDO:0010392; MedGen: C1970848; Orphanet: 713; OMIM: 300653

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030858OMIMno assertion criteria providedPathogenic
(Jul 1, 2006)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Flanagan JM, Rhodes M, Wilson M, Beutler E.

Br J Haematol. 2006 Jul;134(2):233-7. Epub 2006 Jun 1.

PubMed [citation]
PMID:
16740138

Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.

Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R.

Blood. 1994 Aug 1;84(3):898-903.

PubMed [citation]
PMID:
8043870
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000030858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In 2 affected boys of a white American family with PGK1 deficiency (300653), Flanagan et al. (2006) identified a 491A-T transversion in exon 5 of the PGK1 gene, resulting in an asp164-to-val (D164V) substitution. The 2 boys presented with hemolytic anemia, seizures, and developmental delay. The diagnosis of PGK deficiency was based on an erythrocyte PGK enzyme activity level of less than 5% of normal and identification of the D164V mutation. This mutation had previously been designated PGK-Amiens and described in a French PGK patient (Cohen-Solal et al., 1994) and in a large family of Chinese extraction living in New York (Valentine et al., 1969; Turner et al., 1995). The proband in the family reported by Flanagan et al. (2006) also had hemiplegic migraines, retinal dystrophy, and muscle fatigue. The 3 families in which this mutation had been described appeared to represent recurrent mutations.

This variant has also been referred to as PGK NEW YORK.

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

Last Updated: Apr 17, 2020

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