chr5-136663359-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000718111.1(CTB-1I21.1):n.309+62517G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0544 in 152,026 control chromosomes in the GnomAD database, including 505 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
ENST00000718111.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTB-1I21.1 | ENST00000718111.1 | n.309+62517G>A | intron_variant | Intron 2 of 3 | ||||||
CTB-1I21.1 | ENST00000755222.1 | n.309+62517G>A | intron_variant | Intron 2 of 3 | ||||||
CTB-1I21.1 | ENST00000755223.1 | n.309+62517G>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.0543 AC: 8251AN: 151908Hom.: 504 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.0544 AC: 8269AN: 152026Hom.: 505 Cov.: 33 AF XY: 0.0557 AC XY: 4138AN XY: 74314 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at