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NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:
Pathogenic (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:
RCV002305777.2

Allele description [Variation Report for NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)]

NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)

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.1118T>C (p.Phe373Ser)
HGVS:
  • NC_000023.11:g.154532736A>G
  • NG_009015.2:g.19837T>C
  • NM_000402.4:c.1208T>C
  • NM_001042351.3:c.1118T>C
  • NM_001360016.2:c.1118T>CMANE SELECT
  • NP_000393.4:p.Phe403Ser
  • NP_001035810.1:p.Phe373Ser
  • NP_001035810.1:p.Phe373Ser
  • NP_001346945.1:p.Phe373Ser
  • NC_000023.10:g.153760951A>G
  • NM_001042351.1:c.1118T>C
  • NM_001042351.2:c.1118T>C
Protein change:
F373S
Molecular consequence:
  • NM_000402.4:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1118T>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002599357Dunham Lab, University of Washington
criteria provided, single submitter

(Bayesian ACMG Guidelines, 2018)		Pathogenic
(Aug 12, 2022) 		inheritedcuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.

Tong Y, Liu B, Zheng H, Bao A, Wu Z, Gu J, Tan BH, McGrath M, Kane S, Song C, Li Y.

BMC Med Genet. 2020 Jul 17;21(1):150. doi: 10.1186/s12881-020-01090-2.

PubMed [citation]
PMID:
32680472
PMCID:
PMC7367331

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, SCV002599357.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

Variant found in unrelated hemizygotes with deficiency, CNSHA, and jaundice (PS4_M, PP4). Segregates in multiple families: hemizygotes have severe deficiency, and heterozygotes have slightly dereased G6PD activity and CNSHA (PP1_M). Decreased activity in red blood cells (3-5%) (PS3). Predicted to be pathogenic or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024