6-31900627-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181842.3(ZBTB12):c.679G>A(p.Gly227Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000558 in 1,612,678 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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB12 | ENST00000375527.3 | c.679G>A | p.Gly227Arg | missense_variant | Exon 2 of 2 | 1 | NM_181842.3 | ENSP00000364677.2 | ||
C2 | ENST00000695637.1 | c.-360+2352C>T | intron_variant | Intron 1 of 17 | ENSP00000512074.1 | |||||
C2 | ENST00000497706.6 | c.-64+2685C>T | intron_variant | Intron 1 of 14 | 5 | ENSP00000417482.2 | ||||
C2 | ENST00000469372.5 | c.-64+2685C>T | intron_variant | Intron 1 of 13 | 2 | ENSP00000418923.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246068Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 134144
GnomAD4 exome AF: 0.0000575 AC: 84AN: 1460440Hom.: 0 Cov.: 58 AF XY: 0.0000523 AC XY: 38AN XY: 726544
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.679G>A (p.G227R) alteration is located in exon 2 (coding exon 1) of the ZBTB12 gene. This alteration results from a G to A substitution at nucleotide position 679, causing the glycine (G) at amino acid position 227 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at