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NM_001360016.2(G6PD):c.1094G>A (p.Arg365His) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 12, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002305722.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)]

NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
Other names:
G6PD Veracruz
HGVS:
  • NC_000023.11:g.154532760C>T
  • NG_009015.2:g.19813G>A
  • NM_000402.4:c.1184G>A
  • NM_001042351.3:c.1094G>A
  • NM_001360016.2:c.1094G>AMANE SELECT
  • NP_000393.4:p.Arg395His
  • NP_001035810.1:p.Arg365His
  • NP_001035810.1:p.Arg365His
  • NP_001346945.1:p.Arg365His
  • NC_000023.10:g.153760975C>T
  • NM_001042351.1:c.1094G>A
  • NM_001042351.2:c.1094G>A
Protein change:
R365H
Molecular consequence:
  • NM_000402.4:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms:
Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0010480; MedGen: C2720289; Orphanet: 466026; OMIM: 300908

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002599266Dunham Lab, University of Washington
criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)		Likely pathogenic
(Aug 12, 2022) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.

Vaca G, Arámbula E, Monsalvo A, Medina C, Nuñez C, Sandoval L, López-Guido B.

Blood Cells Mol Dis. 2003 Jul-Aug;31(1):112-20.

PubMed [citation]
PMID:
12850494

Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population.

Cortés-Morales YY, Vanoye-Carlo A, Castillo-Rodríguez RA, Serrano-Posada H, González-Valdez A, Ortega-Cuellar D, Hernández-Ochoa B, Moreno-Vargas LM, Prada-Gracia D, Sierra-Palacios E, Pérez de la Cruz V, Marcial-Quino J, Gómez-Manzo S.

Int J Biol Macromol. 2018 Nov;119:926-936. doi: 10.1016/j.ijbiomac.2018.08.025. Epub 2018 Aug 8.

PubMed [citation]
PMID:
30096395
See all PubMed Citations (3)

Details of each submission

From Dunham Lab, University of Washington, SCV002599266.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

Variant found in hemizygote with G6PD deficiency (PP4). Decreased activity in red blood cells (less than 15%) and when expressed in E. coli (2%) (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).

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

Last Updated: Mar 30, 2024