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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1084568[uid] (1)
Taxonomy
Prorocentrum foraminosum voucher Pf16IMB-AB13 28S ribosomal RNA gene, partial se...
Prorocentrum foraminosum voucher Pf16IMB-AB13 28S ribosomal RNA gene, partial sequence
gi|929652036|gb|KT203867.1|

Nucleotide
343651[uid] (1)
Taxonomy
matrix protein 1 [Influenza A virus (A/Shanghai/02/2013(H7N9))]
matrix protein 1 [Influenza A virus (A/Shanghai/02/2013(H7N9))]
gi|752901103|ref|YP_009118478.1|

Protein
wk42e06.x1 NCI_CGAP_Pr22 Homo sapiens cDNA clone IMAGE:2418082 3', mRNA sequence
wk42e06.x1 NCI_CGAP_Pr22 Homo sapiens cDNA clone IMAGE:2418082 3', mRNA sequence
gi|5446669|gnl|dbEST|2913951|gb|AI8 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002819464	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Dec 12, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9410474, 18056001, 33636823 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002819464

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Dec 12, 2022)

germline

clinical testing

PubMed (3)
[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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

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

Last Updated: Nov 3, 2024

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