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NM_000402.4(G6PD):c.934G>C (p.Asp312His) AND G6PD MODENA

Germline classification:
other (1 submission)
Last evaluated:
May 24, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000011093.12

Allele description [Variation Report for NM_000402.4(G6PD):c.934G>C (p.Asp312His)]

NM_000402.4(G6PD):c.934G>C (p.Asp312His)

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.934G>C (p.Asp312His)
Other names:
G6PD, ASP282HIS; G6PD Athens-like; G6PD Ferrara-II; G6PD Lodi; G6PD Modena; G6PD Seattle
HGVS:
  • NC_000023.11:g.154533596C>G
  • NG_009015.2:g.18977G>C
  • NM_000402.4:c.934G>C
  • NM_001042351.3:c.844G>C
  • NM_001360016.2:c.844G>CMANE SELECT
  • NP_000393.4:p.Asp312His
  • NP_001035810.1:p.Asp282His
  • NP_001035810.1:p.Asp282His
  • NP_001346945.1:p.Asp282His
  • NC_000023.10:g.153761811C>G
  • NM_000402.3:c.934G>C
  • NM_001042351.1:c.844G>C
  • NM_001042351.2:c.844G>C
  • NM_001042351.3:c.844G>C
  • NM_001360016.2:c.844G>C
Protein change:
D282H; ASP282HIS
Links:
OMIM: 305900.0010; dbSNP: rs137852318
NCBI 1000 Genomes Browser:
rs137852318
Molecular consequence:
  • NM_000402.4:c.934G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.844G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.844G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
G6PD MODENA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031320OMIM
no assertion criteria provided
other
(May 24, 2017) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Characterization of glucose-6-phosphate dehydrogenase variants. I. Occurrence of a G6PD Seattle-like variant in Sardinia and its interaction with the G6PD Mediterranean variant.

Lenzerini L, Meera Khan P, Filippi G, Rattazzi MC, Ray AK, Siniscalco M.

Am J Hum Genet. 1969 Mar;21(2):142-53. No abstract available.

PubMed [citation]
PMID:
5305539
PMCID:
PMC1706428

Characterization of glucose-6-phosphate dehydrogenase variants. II. G6PD Kephalonia, G6PD Attica, and G6PD "Seattle-like" found in Greece.

Rattazzi MC, Lenzerini L, Meera Khan P, Luzzatto L.

Am J Hum Genet. 1969 Mar;21(2):154-67. No abstract available.

PubMed [citation]
PMID:
5770172
PMCID:
PMC1706429
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000031320.3

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

Description

See Lenzerini et al. (1969) and Rattazzi et al. (1969). De Vita et al. (1989) found that G6PD Seattle-like, which produces a relatively mild phenotype, has substitution of histidine for aspartic acid at amino acid 282, resulting from a GAT-to-CAT change in exon 8. Cappellini et al. (1994) found the same variant in an Italian man from the Po delta and designated it G6PD Modena before finding that it had the same mutation as that in G6PD Seattle-like. They stated that the G-to-C transition was at nucleotide 844 in exon 8.

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

Last Updated: Nov 10, 2024