U.S. flag

An official website of the United States government

NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:
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:
RCV002305781.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)]

NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)

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.1155C>G (p.Cys385Trp)
Other names:
G6PD Madrid
HGVS:
  • NC_000023.11:g.154532699G>C
  • NG_009015.2:g.19874C>G
  • NM_000402.4:c.1245C>G
  • NM_001042351.3:c.1155C>G
  • NM_001360016.2:c.1155C>GMANE SELECT
  • NP_000393.4:p.Cys415Trp
  • NP_001035810.1:p.Cys385Trp
  • NP_001035810.1:p.Cys385Trp
  • NP_001346945.1:p.Cys385Trp
  • NC_000023.10:g.153760914G>C
  • NM_001042351.1:c.1155C>G
  • NM_001042351.2:c.1155C>G
Protein change:
C385W
Molecular consequence:
  • NM_000402.4:c.1245C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1155C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1155C>G - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002599362Dunham Lab, University of Washington
criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)
Pathogenic
(Aug 12, 2022)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical, biochemical and molecular relationships.

Zarza R, Pujades A, Rovira A, Saavedra R, Fernandez J, Aymerich M, Vives Corrons JL.

Br J Haematol. 1997 Sep;98(3):578-82.

PubMed [citation]
PMID:
9332310

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.

Lee J, Park J, Choi H, Kim J, Kwon A, Jang W, Chae H, Kim M, Kim Y, Lee JW, Chung NG, Cho B.

Ann Lab Med. 2017 Mar;37(2):108-116. doi: 10.3343/alm.2017.37.2.108.

PubMed [citation]
PMID:
28028996
PMCID:
PMC5203987
See all PubMed Citations (4)

Details of each submission

From Dunham Lab, University of Washington, SCV002599362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

Variant found in hemizygote with deficiency, jaundice, and CNSHA (PP4). Undetectable activity in red blood cells (PS3). Within dimer interface (PM1). Affects same amino acid as pathogenic 385C>R (ClinVar ID 10377) (PM5). Predicted to be pathogenic or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1).

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

Last Updated: Mar 30, 2024