rs267606836
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM1
The ENST00000393562.10(G6PD):c.544C>T(p.Arg182Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,209,651 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R182P) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000393562.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
G6PD | NM_001360016.2 | c.544C>T | p.Arg182Trp | missense_variant | 6/13 | ENST00000393562.10 | NP_001346945.1 | |
G6PD | NM_000402.4 | c.634C>T | p.Arg212Trp | missense_variant | 6/13 | NP_000393.4 | ||
G6PD | NM_001042351.3 | c.544C>T | p.Arg182Trp | missense_variant | 6/13 | NP_001035810.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
G6PD | ENST00000393562.10 | c.544C>T | p.Arg182Trp | missense_variant | 6/13 | 1 | NM_001360016.2 | ENSP00000377192 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000895 AC: 1AN: 111792Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34012
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183118Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67652
GnomAD4 exome AF: 0.00000455 AC: 5AN: 1097859Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 1AN XY: 363261
GnomAD4 genome AF: 0.00000895 AC: 1AN: 111792Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34012
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at