NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) AND G6PD SUNDERLAND

Clinical significance:other (Last evaluated: Oct 24, 2013)

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:
RCV000011140.2

Allele description [Variation Report for NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)]

NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)

Genes:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)
Other names:
G6PD, ILE35DEL; I35del
HGVS:
  • NC_000023.11:g.154546047TGA[2]
  • NG_009015.2:g.6519CAT[2]
  • NG_009896.1:g.8804TGA[2]
  • NM_000402.4:c.192CAT[2]
  • NM_001042351.3:c.102CAT[2]
  • NM_001099856.6:c.189+3594ATG[2]
  • NM_001321396.3:c.-16+3659ATG[2]
  • NM_001360016.2:c.102CAT[2]MANE SELECT
  • NM_001377312.1:c.-16+4655ATG[2]
  • NM_001377313.1:c.-16+4655ATG[2]
  • NP_000393.4:p.Ile66del
  • NP_001035810.1:p.Ile36del
  • NP_001346945.1:p.Ile36del
  • LRG_70:g.8804TGA[2]
  • NC_000023.10:g.153774262TGA[2]
  • NC_000023.10:g.153774268_153774270delTGA
Protein change:
I36del; ILE35DEL
Links:
OMIM: 305900.0041; dbSNP: rs137852338
NCBI 1000 Genomes Browser:
rs137852338
Molecular consequence:
  • NM_000402.4:c.192CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042351.3:c.102CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001360016.2:c.102CAT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001099856.6:c.189+3594ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321396.3:c.-16+3659ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377312.1:c.-16+4655ATG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377313.1:c.-16+4655ATG[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
G6PD SUNDERLAND
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031367OMIMno assertion criteria providedother
(Oct 24, 2013)
germlineliterature only

PubMed (2)
[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

Deficiency in red blood cells.

MacDonald D, Town M, Mason P, Vulliamy T, Luzzatto L, Goff DK.

Nature. 1991 Mar 14;350(6314):115. No abstract available.

PubMed [citation]
PMID:
2005960

Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase.

Kanno H, Huang IY, Kan YW, Yoshida A.

Cell. 1989 Aug 11;58(3):595-606.

PubMed [citation]
PMID:
2758468

Details of each submission

From OMIM, SCV000031367.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Using a PCR-based technique, MacDonald et al. (1991) determined the nucleotide sequence of the entire coding region of the G6PD gene from a person with severe red cell G6PD deficiency and chronic hemolytic anemia (300908). The only abnormality found was a 3-bp deletion in exon 2, which predicted the loss of 1 of 2 adjacent isoleucine residues (amino acid 35 or 36), just upstream of the methionine residue called 'junctional' by Kanno et al. (1989). This part of exon 2 lies in a region that was thought by Kanno et al. (1989) to be encoded by a gene on chromosome 6, an idea subsequently disproved. The observations of MacDonald et al. (1991) demonstrated that a mutation in this X-linked amino-terminal region of G6PD caused deficiency in red cells. The deletion was within a 3-fold CAT repeat and had presumably resulted from misalignment at meiosis, with conservation of the reading frame.

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

Last Updated: May 28, 2021

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