NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) AND Pyruvate kinase deficiency of red cells

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2004)

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:
RCV000001580.2

Allele description [Variation Report for NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)]

NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)

Gene:
PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
HGVS:
  • NC_000001.11:g.155293295C>A
  • NG_011677.1:g.13140G>T
  • NM_000298.6:c.1318G>TMANE SELECT
  • NM_181871.4:c.1225G>T
  • NP_000289.1:p.Glu440Ter
  • NP_870986.1:p.Glu409Ter
  • LRG_1136t1:c.1318G>T
  • LRG_1136:g.13140G>T
  • LRG_1136p1:p.Glu440Ter
  • NC_000001.10:g.155263086C>A
  • NM_000298.5:c.1318G>T
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
1318G-T
Protein change:
E409*
Links:
OMIM: 609712.0012; dbSNP: rs771145576
NCBI 1000 Genomes Browser:
rs771145576
Molecular consequence:
  • NM_000298.6:c.1318G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181871.4:c.1225G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pyruvate kinase deficiency of red cells
Synonyms:
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009950; MedGen: C0340968; Orphanet: 766; OMIM: 266200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021736OMIMno assertion criteria providedPathogenic
(Nov 1, 2004)
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

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency.

Sedano IB, Röthlisberger B, Délèze G, Ottiger C, Panchard MA, Spahr A, Hergersberg M, Bürgi W, Huber A.

Br J Haematol. 2004 Nov;127(3):364-6. No abstract available.

PubMed [citation]
PMID:
15491302

Details of each submission

From OMIM, SCV000021736.1

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

Description

In 4 affected members of a large Swiss kindred with complex consanguinity with pyruvate kinase deficiency (266200), designated PK Aarau, Boo Sedano et al. (2004) identified a homozygous 1318G-T transversion in the PKLR gene, resulting in a premature termination of translation and a truncated protein lacking a terminal fragment of 33 amino acids. Twelve members of the family were diagnosed as the result of life-threatening neonatal anemia and jaundice. Five died within 2 days of birth; all 7 surviving individuals required multiple blood transfusions and were splenectomized later in childhood. One patient died at the age of 11 years because of septicemia after splenectomy.

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

Last Updated: Oct 7, 2021

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