15-43403665-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001141980.3(TP53BP1):c.*3718T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000699 in 1,429,806 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001141980.3 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TP53BP1 | ENST00000382044 | c.*3718T>G | 3_prime_UTR_variant | Exon 28 of 28 | 1 | NM_001141980.3 | ENSP00000371475.5 | |||
TUBGCP4 | ENST00000564079.6 | c.1732-18A>C | intron_variant | Intron 15 of 17 | 1 | NM_014444.5 | ENSP00000456648.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1429806Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 713002
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.