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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:
Genetic Testing Registry (GTR): GTR000613302; 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:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741900Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Dec 14, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewish/Czech/Italian/Sephardic Jewish/Spanish/Polish/Russiangermlineyes1not providednot provided1not providedclinical testing
Caucasiangermlineyes1not providednot provided1not providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi Jewish/Czech/Italian/Sephardic Jewish/Spanish/Polish/Russian1not providednot providedclinical testing PubMed (4)
2Caucasian1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024