NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000153284.2

Allele description

NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro)

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.1058T>C (p.Leu353Pro)

Other names:

G6PD, LEU323PRO

HGVS:

NC_000023.11:g.154533025A>G
NG_009015.2:g.19548T>C
NM_000402.4:c.1058T>C
NM_001042351.2:c.968T>C
NP_000393.4:p.Leu353Pro
NP_001035810.1:p.Leu323Pro
LRG_148:g.19548T>C
LRG_148p1:p.Leu353Pro
NC_000023.10:g.153761240A>G
NM_000402.3:c.1058T>C
NM_001042351.1:c.968T>C

Protein change:

L323P; LEU323PRO

Links:

OMIM: 305900.0028; dbSNP: rs76723693

GMAF:

0.0032(G), 76723693

NCBI 1000 Genomes Browser:

rs76723693

Allele Frequency:

0.00065(G), GO-ESP

Molecular consequence:

NM_000402.4:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000202760	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic (Feb 10, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17611006, 2572288

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000202760

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic
(Feb 10, 2014)

germline

clinical testing

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	germline	unknown	6	not provided	not provided	319	not provided	clinical testing

Citations

PubMed

G6PD deficiency: the genotype-phenotype association.

Mason PJ, Bautista JM, Gilsanz F.

Blood Rev. 2007 Sep;21(5):267-83. Epub 2007 Jul 3. Review. Erratum in: Blood Rev. 2010 Jan;24(1):49.

PubMed [citation]

PMID:: 17611006

Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-.

Beutler E, Kuhl W, Vives-Corrons JL, Prchal JT.

Blood. 1989 Nov 15;74(7):2550-5.

PubMed [citation]

PMID:: 2572288

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000202760.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing (GTR000503100)	PubMed (2)
2	not provided	0	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	192	not provided	not provided	(GTR000503100)	6	not provided	not provided	not provided
2	germline	unknown	127	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Feb 13, 2018

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