rs743544
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001360016.2(G6PD):c.121-773C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0384 in 112,604 control chromosomes in the GnomAD database, including 192 homozygotes. There are 1,510 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001360016.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
G6PD | NM_001360016.2 | c.121-773C>T | intron_variant | ENST00000393562.10 | |||
G6PD | NM_000402.4 | c.211-773C>T | intron_variant | ||||
G6PD | NM_001042351.3 | c.121-773C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
G6PD | ENST00000393562.10 | c.121-773C>T | intron_variant | 1 | NM_001360016.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0384 AC: 4324AN: 112551Hom.: 189 Cov.: 24 AF XY: 0.0436 AC XY: 1511AN XY: 34693
GnomAD4 genome ? AF: 0.0384 AC: 4324AN: 112604Hom.: 192 Cov.: 24 AF XY: 0.0434 AC XY: 1510AN XY: 34756
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at