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NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2020
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:
RCV001313486.7

Allele description [Variation Report for NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)]

NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)

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.829G>T (p.Ala277Ser)
Other names:
p.Ala277Ser
HGVS:
  • NC_000023.11:g.154533611C>A
  • NG_009015.2:g.18962G>T
  • NM_000402.4:c.919G>T
  • NM_001042351.2:c.829G>T
  • NM_001042351.3:c.829G>T
  • NM_001360016.2:c.829G>TMANE SELECT
  • NP_000393.4:p.Ala307Ser
  • NP_001035810.1:p.Ala277Ser
  • NP_001346945.1:p.Ala277Ser
  • NC_000023.10:g.153761826C>A
Protein change:
A277S
Links:
dbSNP: rs1557230050
NCBI 1000 Genomes Browser:
rs1557230050
Molecular consequence:
  • NM_000402.4:c.919G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.829G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.829G>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001503983Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 19, 2020)
germlineclinical testing

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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001503983.4

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

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt G6PD protein function. This sequence change replaces alanine with serine at codon 277 of the G6PD protein (p.Ala277Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with G6PD-related conditions. 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.

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

Last Updated: Sep 29, 2024