U.S. flag

An official website of the United States government

NM_001042351.3(G6PD):c.-9+2T>G 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:
RCV002305753.9

Allele description [Variation Report for NM_001042351.3(G6PD):c.-9+2T>G]

NM_001042351.3(G6PD):c.-9+2T>G

Genes:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
LOC107181288:origin of replication in promoter of G6PD [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001042351.3(G6PD):c.-9+2T>G
HGVS:
  • NC_000023.11:g.154547466A>C
  • NG_009015.2:g.5107T>G
  • NG_009896.1:g.10223A>C
  • NG_046714.1:g.1056A>C
  • NM_001042351.3:c.-9+2T>G
  • NM_001099856.6:c.190-4522A>C
  • NM_001099857.2:c.-295A>C
  • NM_001145255.2:c.-295A>C
  • NM_001321396.3:c.-15-4522A>C
  • NM_001321397.1:c.-295A>C
  • NM_001377312.1:c.-15-4522A>C
  • NM_001377313.1:c.-15-4522A>C
  • LRG_70:g.10223A>C
  • NC_000023.10:g.153775681A>C
Molecular consequence:
  • NM_001099856.6:c.190-4522A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321396.3:c.-15-4522A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377312.1:c.-15-4522A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377313.1:c.-15-4522A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042351.3:c.-9+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms:
Hemolytic anemia due to G6PD deficiency; Favism, susceptibility to; Class I glucose-6-phosphate dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0010480; MedGen: C2720289; Orphanet: 466026; OMIM: 300908

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002599308Dunham Lab, University of Washington
criteria provided, single submitter

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

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

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, SCV002599308.1

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

Description

Converts canonical 5' donor splice site GT>GG (PVS1). Below expected carrier frequency in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1516, Prior_P 0.1).

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

Last Updated: Apr 20, 2024