8-79794718-C-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000502766.2(ENSG00000249328):n.436+7393G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.388 in 151,630 control chromosomes in the GnomAD database, including 11,550 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
ENST00000502766.2 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000249328 | ENST00000502766.2 | n.436+7393G>T | intron_variant | Intron 4 of 5 | 2 | |||||
LINC01607 | ENST00000607172.1 | n.266-7769C>A | intron_variant | Intron 3 of 3 | 2 | |||||
LINC01607 | ENST00000607754.5 | n.160-5843C>A | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.388 AC: 58741AN: 151514Hom.: 11532 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.388 AC: 58812AN: 151630Hom.: 11550 Cov.: 30 AF XY: 0.385 AC XY: 28495AN XY: 74104 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at