18-56263975-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000745030.1(ENSG00000297056):n.646-1114C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.728 in 151,994 control chromosomes in the GnomAD database, including 40,771 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
ENST00000745030.1 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000297056 | ENST00000745030.1 | n.646-1114C>T | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.727 AC: 110489AN: 151876Hom.: 40721 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.728 AC: 110600AN: 151994Hom.: 40771 Cov.: 30 AF XY: 0.726 AC XY: 53934AN XY: 74254 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at