chr6-31900393-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181842.3(ZBTB12):c.913C>T(p.Arg305Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000113 in 1,152,550 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 Uncertain significance (★).
Frequency
Consequence
NM_181842.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZBTB12 | NM_181842.3 | c.913C>T | p.Arg305Trp | missense_variant | 2/2 | ENST00000375527.3 | |
C2 | NM_001282457.2 | c.-64+2451G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZBTB12 | ENST00000375527.3 | c.913C>T | p.Arg305Trp | missense_variant | 2/2 | 1 | NM_181842.3 | P1 | |
C2 | ENST00000469372.5 | c.-64+2451G>A | intron_variant | 2 | |||||
C2 | ENST00000497706.6 | c.-64+2451G>A | intron_variant | 5 | |||||
C2 | ENST00000695637.1 | c.-360+2118G>A | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000113 AC: 13AN: 1152550Hom.: 0 Cov.: 52 AF XY: 0.0000106 AC XY: 6AN XY: 565836
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.