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NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 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:
RCV002509203.8

Allele description [Variation Report for NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)]

NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)

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.1048G>C (p.Asp350His)
Other names:
G6PD Mira d'Aire
HGVS:
  • NC_000023.11:g.154532945C>G
  • NG_009015.2:g.19628G>C
  • NM_000402.4:c.1138G>C
  • NM_001042351.3:c.1048G>C
  • NM_001360016.2:c.1048G>CMANE SELECT
  • NP_000393.4:p.Asp380His
  • NP_001035810.1:p.Asp350His
  • NP_001035810.1:p.Asp350His
  • NP_001346945.1:p.Asp350His
  • NC_000023.10:g.153761160C>G
  • NM_001042351.1:c.1048G>C
  • NM_001042351.2:c.1048G>C
  • NM_001042351.3:c.1048G>C
Protein change:
D350H
Links:
dbSNP: rs34193178
NCBI 1000 Genomes Browser:
rs34193178
Molecular consequence:
  • NM_000402.4:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1048G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002819464Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Dec 12, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Hematologically important mutations: glucose-6-phosphate dehydrogenase.

Bulliamy T, Luzzatto L, Hirono A, Beutler E.

Blood Cells Mol Dis. 1997 Aug;23(2):302-13. Review. No abstract available.

PubMed [citation]
PMID:
9410474

Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles.

Manco L, Gonçalves P, Antunes P, Maduro F, Abade A, Ribeiro ML.

Haematologica. 2007 Dec;92(12):1713-4.

PubMed [citation]
PMID:
18056001
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002819464.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: G6PD c.1138G>C (p.Asp380His) results in a non-conservative amino acid change located in the Glucose-6-phosphate dehydrogenase, C-terminal domain (IPR022675) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00046 in 204594 control chromosomes, including 23 hemizygotes (gnomAD). c.1138G>C, also known as the "Mira d'Aire" variant, has been reported in the literature in individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency (e.g. Bulliamy_1997, Manco_2007, Powers_2018). These reports do not provide unequivocal conclusions about association of the variant with Glucose 6 Phosphate Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance and three as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Sep 29, 2024