7-2432973-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018641.5(CHST12):c.334C>T(p.Arg112Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,608,788 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018641.5 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 |
---|---|---|---|---|---|---|---|
CHST12 | NM_018641.5 | c.334C>T | p.Arg112Trp | missense_variant | 2/2 | ENST00000618655.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHST12 | ENST00000618655.2 | c.334C>T | p.Arg112Trp | missense_variant | 2/2 | 1 | NM_018641.5 | P1 | |
CHST12 | ENST00000258711.7 | c.334C>T | p.Arg112Trp | missense_variant | 2/2 | 1 | P1 | ||
CHST12 | ENST00000432336.1 | c.334C>T | p.Arg112Trp | missense_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 240428Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131726
GnomAD4 exome AF: 0.00000893 AC: 13AN: 1456482Hom.: 0 Cov.: 32 AF XY: 0.0000111 AC XY: 8AN XY: 723976
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at