rs623244
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000283629.8(UBP1):c.1031+7A>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,546,476 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 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
ENST00000283629.8 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBP1 | NM_014517.5 | c.1031+7A>T | splice_region_variant, intron_variant | ENST00000283629.8 | NP_055332.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBP1 | ENST00000283629.8 | c.1031+7A>T | splice_region_variant, intron_variant | 1 | NM_014517.5 | ENSP00000283629 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151808Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000650 AC: 12AN: 184548Hom.: 0 AF XY: 0.0000906 AC XY: 9AN XY: 99304
GnomAD4 exome AF: 0.0000308 AC: 43AN: 1394668Hom.: 0 Cov.: 28 AF XY: 0.0000392 AC XY: 27AN XY: 689372
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151808Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74126
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at