rs201117345
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001918.5(DBT):c.1210-5_1210-4del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 1,289,922 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001918.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DBT | NM_001918.5 | c.1210-5_1210-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000370132.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DBT | ENST00000370132.8 | c.1210-5_1210-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001918.5 | P1 | |||
DBT | ENST00000681617.1 | c.1336-5_1336-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||||
DBT | ENST00000681780.1 | c.667-5_667-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome AF: 0.0000178 AC: 23AN: 1289922Hom.: 0 AF XY: 0.0000248 AC XY: 16AN XY: 644166
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at