1-155015779-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001256455.2(ZBTB7B):c.1119C>T(p.Pro373Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P373P) has been classified as Benign.
Frequency
Consequence
NM_001256455.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB7B | ENST00000535420.6 | c.1119C>T | p.Pro373Pro | synonymous_variant | Exon 2 of 3 | 5 | NM_001256455.2 | ENSP00000438647.1 | ||
ZBTB7B | ENST00000292176.2 | c.1119C>T | p.Pro373Pro | synonymous_variant | Exon 1 of 2 | 1 | ENSP00000292176.2 | |||
ZBTB7B | ENST00000368426.3 | c.1119C>T | p.Pro373Pro | synonymous_variant | Exon 3 of 4 | 1 | ENSP00000357411.3 | |||
ZBTB7B | ENST00000417934.6 | c.1221C>T | p.Pro407Pro | synonymous_variant | Exon 4 of 5 | 2 | ENSP00000406286.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249400Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135304
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459874Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726250
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at