rs4715359
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000412182.2(GSTA10P):n.437+95C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.676 in 152,462 control chromosomes in the GnomAD database, including 35,047 homozygotes. 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
ENST00000412182.2 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC105375091 | XR_001744165.2 | n.520+5305G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSTA10P | ENST00000412182.2 | n.437+95C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.676 AC: 102800AN: 151966Hom.: 34941 Cov.: 32
GnomAD4 exome AF: 0.661 AC: 250AN: 378Hom.: 79 AF XY: 0.650 AC XY: 147AN XY: 226
GnomAD4 genome ? AF: 0.676 AC: 102878AN: 152084Hom.: 34968 Cov.: 32 AF XY: 0.680 AC XY: 50544AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at