rs117294
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000624219.1(ENSG00000278890):n.5129A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.53 in 152,602 control chromosomes in the GnomAD database, including 21,756 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
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000624219.1 | n.5129A>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.530 AC: 80600AN: 151936Hom.: 21654 Cov.: 32
GnomAD4 exome AF: 0.515 AC: 281AN: 546Hom.: 82 Cov.: 0 AF XY: 0.506 AC XY: 166AN XY: 328
GnomAD4 genome ? AF: 0.531 AC: 80668AN: 152056Hom.: 21674 Cov.: 32 AF XY: 0.528 AC XY: 39238AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at