NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Aug 12, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000066262.8

Allele description

NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)

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.1179C>A (p.Asn393Lys)

Other names:

G6PD, ASN363LYS; G6PD Loma Linda

HGVS:

NC_000023.11:g.154532765G>T
NG_009015.2:g.19808C>A
NM_000402.4:c.1179C>A
NM_001042351.3:c.1089C>A
NM_001360016.2:c.1089C>AMANE SELECT
NP_000393.4:p.Asn393Lys
NP_001035810.1:p.Asn363Lys
NP_001346945.1:p.Asn363Lys
NC_000023.10:g.153760980G>T
NM_000402.4:c.1179C>A
NM_001042351.1:c.1089C>A

Protein change:

N363K; ASN363LYS

Links:

OMIM: 305900.0030; dbSNP: rs137852329

NCBI 1000 Genomes Browser:

rs137852329

Molecular consequence:

NM_000402.4:c.1179C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1089C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1089C>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

Recent activity

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TBC1 domain family member 23 isoform X2 [Homo sapiens]
TBC1 domain family member 23 isoform X2 [Homo sapiens]
gi|2462591297|ref|XP_054203217.1|

Protein
Sympecma fusca voucher GBOL 20281 cytochrome oxidase subunit 1 (COI) gene, parti...
Sympecma fusca voucher GBOL 20281 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|2008115897|gnl|uoguelph|GBODO158 OI-5P|gb|MW490497.1|

Nucleotide
Sympecma fusca voucher NOaS805-2019_OdoEx018 cytochrome oxidase subunit 1 (COI) ...
Sympecma fusca voucher NOaS805-2019_OdoEx018 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|2667916570|gnl|uoguelph|AODON809 OI-5P|gb|OQ507534.1|

Nucleotide
Sympecma fusca voucher NOaS806-2019_OdoEx019 cytochrome oxidase subunit 1 (COI) ...
Sympecma fusca voucher NOaS806-2019_OdoEx019 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|2667916542|gnl|uoguelph|AODON810 OI-5P|gb|OQ507520.1|

Nucleotide
Deleted in azoospermia 3 [Homo sapiens]
Deleted in azoospermia 3 [Homo sapiens]
gi|86577762|gb|AAI13006.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000105930	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1990)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002599265	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Likely pathogenic (Aug 12, 2022)	unknown	curation	PubMed (3) [See all records that cite these PMIDs] 2190319, 1999409, 29300386
SCV002761552	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 9, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000105930

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1990)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV002599265

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Likely pathogenic
(Aug 12, 2022)

unknown

curation

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

SCV002761552

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 9, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.

Beutler E, Kuhl W.

Am J Hum Genet. 1990 Dec;47(6):1008-12.

PubMed [citation]

PMID:: 1978554
PMCID:: PMC1683912

The genetics of glucose-6-phosphate dehydrogenase deficiency.

Beutler E.

Semin Hematol. 1990 Apr;27(2):137-64. Review.

PubMed [citation]

PMID:: 2190319

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000105930.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with nonspherocytic hemolytic anemia (300908), Beutler et al. (1991) identified a C-to-A mutation at nucleotide 1089 in exon 10, producing substitution of asparagine-363 by lysine.

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

From Dunham Lab, University of Washington, SCV002599265.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased activity in red blood cells (1%) (PS3). 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

From Genetics and Molecular Pathology, SA Pathology, SCV002761552.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Mar 30, 2024

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