NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND Glucose 6 phosphate dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: Apr 5, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778152.1

Allele description [Variation Report for NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)]

NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
Other names:
G6PD, ARG459PRO
HGVS:
  • NC_000023.11:g.154532269C>G
  • NG_009015.2:g.20304G>C
  • NM_000402.4:c.1466G>C
  • NM_001042351.3:c.1376G>C
  • NM_001360016.2:c.1376G>CMANE SELECT
  • NP_000393.4:p.Arg489Pro
  • NP_001035810.1:p.Arg459Pro
  • NP_001346945.1:p.Arg459Pro
  • NC_000023.10:g.153760484C>G
  • NM_001042351.1:c.1376G>C
  • NM_001042351.2:c.1376G>C
Protein change:
R459P; ARG459PRO
Links:
OMIM: 305900.0059; dbSNP: rs72554665
NCBI 1000 Genomes Browser:
rs72554665
Molecular consequence:
  • NM_000402.4:c.1466G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glucose 6 phosphate dehydrogenase deficiency
Synonyms:
G6PD A-
Identifiers:
MONDO: MONDO:0005775; MedGen: C2939465

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914284Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Pathogenic
(Apr 5, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split.

Barišić M, Korać J, Pavlinac I, Krželj V, Marušić E, Vulliamy T, Terzić J.

J Hum Genet. 2005;50(11):547-549. doi: 10.1007/s10038-005-0292-2. Epub 2005 Sep 6.

PubMed [citation]
PMID:
16143877

Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study.

Moosazadeh M, Nekoei-Moghadam M, Aliram-Zany M, Amiresmaili M.

Iran J Public Health. 2013 Sep;42(9):1007-15.

PubMed [citation]
PMID:
26060661
PMCID:
PMC4453879
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000914284.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Across a selection of available literature, the G6PD c.1376G>C (p.Arg459Pro) missense variant, also referred to as c.1466G>C (p.Arg489Pro) or the "Cosenza" variant, has been reported in at least 24 individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency (Calabro et al. 1993; Barisic et al. 2005; Moosazadeh et al. 2013; Javadi et al. 2015). The p.Arg459Pro variant has been identified in multiple ethnic populations from countries around the Mediterranean (including Italy and Iran) and is most prevalent in Croatia. This variant is associated with a severe form of G6PD enzyme deficiency (Calabro et al. 1993; Moosazadeh et al. 2013). Control data are not available for this variant, which is reported at a frequency of 0.000248 in the Other population of the Genome Aggregation Database but this is based on one allele in a region of good sequencing coverage so the variant is presumed to be rare in the general population. Functional assays demonstrate that the p.Arg459Pro variant results in reduced enzyme activity, between 2% and 9.5% of normal (Calabro et al. 1993; Barisic et al. 2005). Based on the collective evidence, the p.Arg489Pro variant is classified as pathogenic for glucose-6-phosphate dehydrogenase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Nov 27, 2021

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