NM_001360016.2(G6PD):c.486-60C>G AND Glucose 6 phosphate dehydrogenase deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Pathogenic(1) (Last evaluated: Jan 6, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000011095.6

Allele description [Variation Report for NM_001360016.2(G6PD):c.486-60C>G]

NM_001360016.2(G6PD):c.486-60C>G

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.486-60C>G
Other names:
G6PD, EX6, -60, C-G
HGVS:
  • NC_000023.11:g.154534556G>C
  • NG_009015.2:g.18017C>G
  • NM_000402.4:c.576-60C>G
  • NM_001042351.3:c.486-60C>G
  • NM_001360016.2:c.486-60C>GMANE SELECT
  • NC_000023.10:g.153762771G>C
  • NM_000402.3:c.576-60C>G
  • NM_001042351.2:c.486-60C>G
Links:
OMIM: 305900.0019; dbSNP: rs2515904
NCBI 1000 Genomes Browser:
rs2515904
Molecular consequence:
  • NM_000402.4:c.576-60C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042351.3:c.486-60C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001360016.2:c.486-60C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Glucose 6 phosphate dehydrogenase deficiency
Synonyms:
G6PD A-
Identifiers:
MONDO: MONDO:0005775; MedGen: C2939465

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031322OMIMno assertion criteria providedPathogenic
(Sep 28, 1979)
germlineliterature only

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

Yoshida, A. Personal Communication. 1996. Duarte, Calif.,

SCV001142506Reproductive Health Research and Development,BGI Genomicsno assertion criteria providedBenign
(Jan 6, 2020)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells.

Luzzatto L, Usanga EA, Bienzle U, Esan GF, Fusuan FA.

Science. 1979 Sep 28;205(4413):1418-20.

PubMed [citation]
PMID:
472761

Details of each submission

From OMIM, SCV000031322.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Yoshida et al. (1988) found a RFLP resulting from a substitution in intron 5, creating a PvuII site. The probable change was C to G at a position 60 nucleotides upstream from exon 6 (Luzzatto, 1990).

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

From Reproductive Health Research and Development,BGI Genomics, SCV001142506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NG_009015.2(NM_001042351.2):c.486-60C>G in the gene G6PD has an allele frequency of 0.155 in African subpopulation in the gnomAD database. A total of 43 homozygous and 316 hemizygotes occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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

Last Updated: Nov 27, 2021

Support Center