NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val) 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:: RCV002305778.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)]

NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)

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.1138A>G (p.Ile380Val)

Other names:

G6PD Calvo Mackenna

HGVS:

NC_000023.11:g.154532716T>C
NG_009015.2:g.19857A>G
NM_000402.4:c.1228A>G
NM_001042351.3:c.1138A>G
NM_001360016.2:c.1138A>GMANE SELECT
NP_000393.4:p.Ile410Val
NP_001035810.1:p.Ile380Val
NP_001035810.1:p.Ile380Val
NP_001346945.1:p.Ile380Val
NC_000023.10:g.153760931T>C
NM_001042351.1:c.1138A>G
NM_001042351.2:c.1138A>G

Protein change:

I380V

Molecular consequence:

NM_000402.4:c.1228A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)
Synonyms:: Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010480; MedGen: C2720289; Orphanet: 466026; OMIM: 300908

Recent activity

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Early-responsive to dehydration stress protein (ERD4) [Arabidopsis thaliana]
Early-responsive to dehydration stress protein (ERD4) [Arabidopsis thaliana]
gi|145337329|ref|NP_177104.2|

Protein
Xenopus tropicalis strain Nigerian, whole genome shotgun sequencing project
Xenopus tropicalis strain Nigerian, whole genome shotgun sequencing project
gi|1774944503|gb|AAMC00000000.4|AAM 0000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599358	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Pathogenic (Aug 12, 2022)	maternal	curation	PubMed (4) [See all records that cite these PMIDs] 7655862, 28028996, 31294066, 29300386

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599358

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Pathogenic
(Aug 12, 2022)

maternal

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Three new exon 10 glucose-6-phosphate dehydrogenase mutations.

Beutler E, Westwood B, Melemed A, Dal Borgo P, Margolis D.

Blood Cells Mol Dis. 1995;21(1):64-72. Review.

PubMed [citation]

PMID:: 7655862

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, SCV002599358.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

Description

Variant found in hemizygote with deficiency and CNSHA (PP4). Heterozygous mother also has decreased G6PD activity (PP1). Decreased activity in red blood cells (PS3). Within dimer interface (PM1). Predicted to be possibly damaging or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3155, Prior_P 0.1).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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