NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND G6PD deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001166654.12

Allele description [Variation Report for NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)]

NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)

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.1048G>C (p.Asp350His)

Other names:

G6PD Mira d'Aire

HGVS:

NC_000023.11:g.154532945C>G
NG_009015.2:g.19628G>C
NM_000402.4:c.1138G>C
NM_001042351.3:c.1048G>C
NM_001360016.2:c.1048G>CMANE SELECT
NP_000393.4:p.Asp380His
NP_001035810.1:p.Asp350His
NP_001035810.1:p.Asp350His
NP_001346945.1:p.Asp350His
NC_000023.10:g.153761160C>G
NM_001042351.1:c.1048G>C
NM_001042351.2:c.1048G>C
NM_001042351.3:c.1048G>C

Protein change:

D350H

Links:

dbSNP: rs34193178

NCBI 1000 Genomes Browser:

rs34193178

Molecular consequence:

NM_000402.4:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: G6PD deficiency
Synonyms:: Glucose 6 phosphate dehydrogenase deficiency; G6PD A-
Identifiers:: MONDO: MONDO:0005775; MedGen: C2939465

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001329050	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9410474, 21931771, 23757202, 15914531 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001329050

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Hematologically important mutations: glucose-6-phosphate dehydrogenase.

Bulliamy T, Luzzatto L, Hirono A, Beutler E.

Blood Cells Mol Dis. 1997 Aug;23(2):302-13. Review. No abstract available.

PubMed [citation]

PMID:: 9410474

Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

B R, C GP.

PLoS One. 2011;6(9):e24607. doi: 10.1371/journal.pone.0024607. Epub 2011 Sep 13.

PubMed [citation]

PMID:: 21931771
PMCID:: PMC3172254

See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001329050.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 3, 2024

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