11-118384947-TAAAAAAAAAAAAA-TAAAAAAAAAAAA
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The ENST00000252108.8(UBE4A):c.2412+3delA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 1,056,106 control chromosomes in the GnomAD database, including 244 homozygotes. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000252108.8 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBE4A | NM_001204077.2 | c.2412+23delA | intron_variant | Intron 15 of 19 | ENST00000252108.8 | NP_001191006.1 | ||
UBE4A | NM_004788.4 | c.2433+23delA | intron_variant | Intron 15 of 19 | NP_004779.2 | |||
LOC100131626 | NR_046369.1 | n.232-3388delT | intron_variant | Intron 3 of 3 | ||||
LOC100131626 | NR_046370.1 | n.232-3441delT | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBE4A | ENST00000252108.8 | c.2412+3delA | splice_region_variant, intron_variant | Intron 15 of 19 | 1 | NM_001204077.2 | ENSP00000252108.4 | |||
UBE4A | ENST00000431736.6 | c.2433+3delA | splice_region_variant, intron_variant | Intron 15 of 19 | 1 | ENSP00000387362.2 | ||||
UBE4A | ENST00000545354.1 | c.828+3delA | splice_region_variant, intron_variant | Intron 6 of 10 | 2 | ENSP00000438918.1 |
Frequencies
GnomAD3 genomes AF: 0.0895 AC: 7114AN: 79474Hom.: 178 Cov.: 29
GnomAD3 exomes AF: 0.135 AC: 11307AN: 83660Hom.: 6 AF XY: 0.132 AC XY: 5985AN XY: 45246
GnomAD4 exome AF: 0.201 AC: 195925AN: 976640Hom.: 64 Cov.: 0 AF XY: 0.197 AC XY: 98262AN XY: 497596
GnomAD4 genome AF: 0.0897 AC: 7125AN: 79466Hom.: 180 Cov.: 29 AF XY: 0.0893 AC XY: 3372AN XY: 37758
ClinVar
Submissions by phenotype
not specified Benign:2
- -
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Outside ROI, Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at