NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:: Uncertain significance (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:: RCV002305484.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)]

NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)

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.1096A>G (p.Lys366Glu)

Other names:

G6PD Tenri

HGVS:

NC_000023.11:g.154532758T>C
NG_009015.2:g.19815A>G
NM_000402.4:c.1186A>G
NM_001042351.3:c.1096A>G
NM_001360016.2:c.1096A>GMANE SELECT
NP_000393.4:p.Lys396Glu
NP_001035810.1:p.Lys366Glu
NP_001346945.1:p.Lys366Glu
NC_000023.10:g.153760973T>C
NM_000402.3:c.1186A>G
NM_001042351.1:c.1096A>G

Protein change:

K366E

Links:

dbSNP: rs1057518975

NCBI 1000 Genomes Browser:

rs1057518975

Molecular consequence:

NM_000402.4:c.1186A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1096A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1096A>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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Mus musculus ankyrin repeat domain 27 (VPS9 domain), mRNA (cDNA clone IMAGE:4221...
Mus musculus ankyrin repeat domain 27 (VPS9 domain), mRNA (cDNA clone IMAGE:4221252), complete cds
gi|16741322|gb|BC016493.1|

Nucleotide
major facilitator superfamily domain-containing protein 4A isoform X2 [Mus muscu...
major facilitator superfamily domain-containing protein 4A isoform X2 [Mus musculus]
gi|568908567|ref|XP_006529408.1|

Protein
L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
L-fucokinase/GDP-L-fucose pyrophosphorylase [Trifolium repens]
gi|2583125944|gb|KAK2424067.1||gnl| AVQLX|drTriRepe4Chr6g412600.1.cds

Protein
Leishmania major strain Friedlin alpha tubulin partial mRNA
Leishmania major strain Friedlin alpha tubulin partial mRNA
gi|157866133|ref|XM_001681721.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599414	Dunham Lab, University of Washington	criteria provided, single submitter (Bayesian ACMG Guidelines, 2018)	Uncertain significance (Aug 12, 2022)	unknown	curation	PubMed (2) [See all records that cite these PMIDs] 12064901, 29300386

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599414

Dunham Lab, University of Washington

criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)

Uncertain significance
(Aug 12, 2022)

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

Hematologically important mutations: glucose-6-phosphate dehydrogenase.

Beutler E, Vulliamy TJ.

Blood Cells Mol Dis. 2002 Mar-Apr;28(2):93-103. Review. No abstract available.

PubMed [citation]

PMID:: 12064901

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)..

Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.

PubMed [citation]

PMID:: 29300386
PMCID:: PMC6336098

Details of each submission

From Dunham Lab, University of Washington, SCV002599414.1

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

Description

Variant found in hemizygote with deficiency (PP4). Not found in gnomAD (PM2). Post_P 0.500 (odds of pathogenicity 9.01, 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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