X-154532765-G-T
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PM2PP3_ModeratePP5_Very_Strong
The NM_001360016.2(G6PD):c.1089C>A(p.Asn363Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_001360016.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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G6PD | NM_001360016.2 | c.1089C>A | p.Asn363Lys | missense_variant | Exon 10 of 13 | ENST00000393562.10 | NP_001346945.1 | |
G6PD | NM_000402.4 | c.1179C>A | p.Asn393Lys | missense_variant | Exon 10 of 13 | NP_000393.4 | ||
G6PD | NM_001042351.3 | c.1089C>A | p.Asn363Lys | missense_variant | Exon 10 of 13 | NP_001035810.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 25
ClinVar
Submissions by phenotype
Anemia, nonspherocytic hemolytic, due to G6PD deficiency Pathogenic:3
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Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Decreased activity in red blood cells (1%) (PS3). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1). -
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G6PD LOMA LINDA Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at