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

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 14, 2021)
Last evaluated:
Jul 5, 2018
Accession:
VCV000010374.4
Variation ID:
10374
Description:
single nucleotide variant
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NM_001360016.2(G6PD):c.486-60C>G

Allele ID
25413
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154534556 (GRCh38) GRCh38 UCSC
X: 153762771 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153762771G>C
NC_000023.11:g.154534556G>C
NG_009015.2:g.18017C>G
... more HGVS
Protein change
-
Other names
G6PD, EX6, -60, C-G
Canonical SPDI
NC_000023.11:154534555:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.04848 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.04753
The Genome Aggregation Database (gnomAD) 0.04195
1000 Genomes Project 0.04848
Links
ClinGen: CA120967
OMIM: 305900.0019
dbSNP: rs2515904
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 5, 2018 RCV001642221.2
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Jan 6, 2020 RCV000011095.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PD - - GRCh38
GRCh37
222 461

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001861134.1
Submitted: (Sep 14, 2021)
Evidence details
Pathogenic
(Sep 28, 1979)
no assertion criteria provided
Method: literature only
G6PD RFLP
Allele origin: germline
OMIM
Accession: SCV000031322.4
Submitted: (Jun 18, 2014)
Evidence details
Publications
PubMed (1)
Yoshida, A. Personal Communication.  (more...)
Benign
(Jan 06, 2020)
no assertion criteria provided
Method: curation
Glucose 6 phosphate dehydrogenase deficiency
Allele origin: germline
Reproductive Health Research and Development,BGI Genomics
Accession: SCV001142506.1
Submitted: (Jan 06, 2020)
Evidence details
Comment:
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 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. Luzzatto L Science (New York, N.Y.) 1979 PMID: 472761
Yoshida, A. Personal Communication. 1996. Duarte, Calif. - - - -

Text-mined citations for rs2515904...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 06, 2021