chr18-1690050-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000580524.1(ENSG00000266450):n.408+33555C>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 0.735 in 152,100 control chromosomes in the GnomAD database, including 41,807 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000580524.1 | n.408+33555C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000661994.1 | n.374+40257C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.735 AC: 111688AN: 151982Hom.: 41759 Cov.: 33
GnomAD4 genome ? AF: 0.735 AC: 111789AN: 152100Hom.: 41807 Cov.: 33 AF XY: 0.737 AC XY: 54791AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at