NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000066233.6

Allele description [Variation Report for NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)]

NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)

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.1429G>A (p.Gly477Arg)
Other names:
G6PD, GLY447ARG
HGVS:
  • NC_000023.11:g.154532411C>T
  • NG_009015.2:g.20162G>A
  • NM_000402.4:c.1429G>A
  • NM_001042351.2:c.1339G>A
  • NP_000393.4:p.Gly477Arg
  • NP_001035810.1:p.Gly447Arg
  • LRG_148:g.20162G>A
  • LRG_148p1:p.Gly477Arg
  • NC_000023.10:g.153760626C>T
  • NM_000402.3:c.1429G>A
  • NM_001042351.1:c.1339G>A
Protein change:
G447R; GLY447ARG
Links:
OMIM: 305900.0009; dbSNP: rs137852317
NCBI 1000 Genomes Browser:
rs137852317
Molecular consequence:
  • NM_000402.4:c.1429G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms:
Hemolytic anemia due to G6PD deficiency; Glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to
Identifiers:
MedGen: C2720289; OMIM: 300908

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000105926OMIMno assertion criteria providedPathogenic
(Jul 25, 1989)
germlineliterature only

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

SCV000225262EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 18, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.

Vulliamy TJ, Wanachiwanawin W, Mason PJ, Luzzatto L.

Nucleic Acids Res. 1989 Jul 25;17(14):5868. No abstract available.

PubMed [citation]
PMID:
2503817
PMCID:
PMC318229

Details of each submission

From OMIM, SCV000105926.3

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

Description

Substitution of adenine for guanine as base number 1339 (exon 11) leads to substitution of arginine for glycine at amino acid position 447 (Vulliamy et al., 1988). This variant is associated with severe chronic hemolytic anemia (class 1; 300908). It was found in a sporadic case. A new PstI site was created, and this was used to show that it was a new mutation.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000225262.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2019

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