6-52985357-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001512.4(GSTA4):c.272+94C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000571 in 1,051,648 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_001512.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GSTA4 | NM_001512.4 | c.272+94C>A | intron_variant | Intron 4 of 6 | ENST00000370963.9 | NP_001503.1 | ||
GSTA4 | XM_005249035.5 | c.272+94C>A | intron_variant | Intron 4 of 6 | XP_005249092.1 | |||
GSTA4 | XM_011514534.4 | c.161+94C>A | intron_variant | Intron 3 of 5 | XP_011512836.1 | |||
GSTA4 | XM_011514535.4 | c.161+94C>A | intron_variant | Intron 3 of 5 | XP_011512837.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000571 AC: 6AN: 1051648Hom.: 0 AF XY: 0.00000947 AC XY: 5AN XY: 527882
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.