rs3811715
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001168278.3(WWTR1):c.-107-3C>T 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 0.198 in 152,232 control chromosomes in the GnomAD database, including 3,247 homozygotes. 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
NM_001168278.3 splice_region, splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
WWTR1 | NM_001168278.3 | c.-107-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
WWTR1 | NM_001348362.2 | c.-107-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
WWTR1 | XM_017006122.2 | c.-107-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WWTR1 | ENST00000465804.5 | c.-107-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | P1 | ||||
WWTR1 | ENST00000475579.1 | c.-107-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.198 AC: 30143AN: 151998Hom.: 3233 Cov.: 32
GnomAD4 exome AF: 0.172 AC: 20AN: 116Hom.: 2 Cov.: 0 AF XY: 0.186 AC XY: 16AN XY: 86
GnomAD4 genome AF: 0.198 AC: 30181AN: 152116Hom.: 3245 Cov.: 32 AF XY: 0.200 AC XY: 14908AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at