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NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV003053692.9

Allele description [Variation Report for NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)]

NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)

Genes:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
HGVS:
  • NC_000023.11:g.154546068C>T
  • NG_009015.2:g.6505G>A
  • NG_009896.1:g.8825C>T
  • NG_147856.1:g.287C>T
  • NM_000402.4:c.178G>A
  • NM_001042351.3:c.88G>A
  • NM_001099856.6:c.189+3616C>T
  • NM_001321396.3:c.-16+3681C>T
  • NM_001360016.2:c.88G>AMANE SELECT
  • NM_001377312.1:c.-16+4677C>T
  • NM_001377313.1:c.-16+4677C>T
  • NP_000393.4:p.Asp60Asn
  • NP_001035810.1:p.Asp30Asn
  • NP_001035810.1:p.Asp30Asn
  • NP_001346945.1:p.Asp30Asn
  • LRG_70:g.8825C>T
  • NC_000023.10:g.153774283C>T
  • NM_001042351.2:c.88G>A
Protein change:
D30N
Molecular consequence:
  • NM_001099856.6:c.189+3616C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321396.3:c.-16+3681C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377312.1:c.-16+4677C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377313.1:c.-16+4677C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000402.4:c.178G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003335349Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003335349.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with G6PD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 30 of the G6PD protein (p.Asp30Asn).

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

Last Updated: Sep 16, 2024