NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 14, 2016
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:: RCV000623137.11

Allele description [Variation Report for NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)]

NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)

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.653C>T (p.Ser218Phe)

Other names:

G6PD, SER188PHE; G6PD Birmingham; G6PD Cagliari; G6PD Dallas; G6PD Mediterranean; G6PD Panama; G6PD Sassari

HGVS:

NC_000023.11:g.154534419G>A
NG_009015.2:g.18154C>T
NM_000402.4:c.653C>T
NM_001042351.3:c.563C>T
NM_001360016.2:c.563C>TMANE SELECT
NP_000393.4:p.Ser218Phe
NP_001035810.1:p.Ser188Phe
NP_001035810.1:p.Ser188Phe
NP_001035810.1:p.Ser188Phe
NP_001346945.1:p.Ser188Phe
NC_000023.10:g.153762634G>A
NM_000402.3:c.653C>T
NM_001042351.1:c.563C>T
NM_001042351.2:c.563C>T
NM_001042351.2:c.[563C>T]
NM_001042351.3:c.563C>T
NM_001360016.2:c.563C>T

Protein change:

S188F; SER188PHE

Links:

OMIM: 305900.0006; dbSNP: rs5030868

NCBI 1000 Genomes Browser:

rs5030868

Molecular consequence:

NM_000402.4:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741900	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Dec 14, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12768444, 3393536, 1978554, 2912069 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741900

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Dec 14, 2016)

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
Ashkenazi Jewish/Czech/Italian/Sephardic Jewish/Spanish/Polish/Russian	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Two cases of glucose-6-phosphate dehydrogenase-deficient Nepalese belonging to the G6PD Mediterranean-type, not India-Pakistan sub-type but Mediterranean-Middle East sub-type.

Matsuoka H, Jichun W, Hirai M, Yoshida S, Arai M, Ishii A, Baral MP.

J Hum Genet. 2003;48(5):275-277. doi: 10.1007/s10038-003-0018-2. Epub 2003 Mar 28.

PubMed [citation]

PMID:: 12768444

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, et al.

Proc Natl Acad Sci U S A. 1988 Jul;85(14):5171-5.

PubMed [citation]

PMID:: 3393536
PMCID:: PMC281710

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000741900.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Ashkenazi Jewish/Czech/Italian/Sephardic Jewish/Spanish/Polish/Russian	1	not provided	not provided	clinical testing	PubMed (4)
2	Caucasian	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: May 19, 2024

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