NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 1, 2024
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:: RCV004699749.1

Allele description [Variation Report for NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe)]

NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe)

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.1438A>T (p.Ile480Phe)

HGVS:

NC_000023.11:g.154532207T>A
NG_009015.2:g.20366A>T
NM_000402.4:c.1528A>T
NM_001042351.3:c.1438A>T
NM_001360016.2:c.1438A>TMANE SELECT
NP_000393.4:p.Ile510Phe
NP_001035810.1:p.Ile480Phe
NP_001035810.1:p.Ile480Phe
NP_001346945.1:p.Ile480Phe
NC_000023.10:g.153760422T>A
NM_001042351.1:c.1438A>T
NM_001042351.2:c.1438A>T

Protein change:

I480F

Molecular consequence:

NM_000402.4:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1438A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1438A>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005203913	Dunham Lab, University of Washington	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 1, 2024)	unknown	curation	PubMed (2) [See all records that cite these PMIDs] 36949502, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005203913

Dunham Lab, University of Washington

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 1, 2024)

unknown

curation

PubMed (2)
[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	unknown	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.

Li Z, Huang Z, Liu Y, Cao Y, Li Y, Fang Y, Huang M, Liu Z, Lin L, Jiang L.

Hum Genomics. 2023 Mar 22;17(1):26. doi: 10.1186/s40246-023-00473-9.

PubMed [citation]

PMID:: 36949502
PMCID:: PMC10035184

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Dunham Lab, University of Washington, SCV005203913.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

Decreased activity reported in RBCs (39%) (PS3). Reported in patient with deficiency (PP4). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).

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

Last Updated: Oct 20, 2024

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