1-155015050-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001256455.2(ZBTB7B):c.390C>A(p.Ile130Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. I130I) has been classified as Benign.
Frequency
Consequence
NM_001256455.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB7B | ENST00000535420.6 | c.390C>A | p.Ile130Ile | synonymous_variant | Exon 2 of 3 | 5 | NM_001256455.2 | ENSP00000438647.1 | ||
ZBTB7B | ENST00000292176.2 | c.390C>A | p.Ile130Ile | synonymous_variant | Exon 1 of 2 | 1 | ENSP00000292176.2 | |||
ZBTB7B | ENST00000368426.3 | c.390C>A | p.Ile130Ile | synonymous_variant | Exon 3 of 4 | 1 | ENSP00000357411.3 | |||
ZBTB7B | ENST00000417934.6 | c.492C>A | p.Ile164Ile | synonymous_variant | Exon 4 of 5 | 2 | ENSP00000406286.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 92
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at