6-80458392-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000656173.1(ENSG00000233967):n.996-4480C>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 0.0992 in 152,176 control chromosomes in the GnomAD database, including 2,279 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCKDHB | XM_047419209.1 | c.1039-4480C>T | intron_variant | ||||
BCKDHB | XR_001743546.3 | n.1062-4480C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000656173.1 | n.996-4480C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000427048.7 | n.2467+4165C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000443221.2 | n.181+4165C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000452402.6 | n.301-4480C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0991 AC: 15066AN: 152058Hom.: 2271 Cov.: 32
GnomAD4 genome ? AF: 0.0992 AC: 15098AN: 152176Hom.: 2279 Cov.: 32 AF XY: 0.0970 AC XY: 7220AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at