22-46793530-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014346.5(TBC1D22A):āc.149C>Gā(p.Thr50Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,614,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014346.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBC1D22A | NM_014346.5 | c.149C>G | p.Thr50Ser | missense_variant | 3/13 | ENST00000337137.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBC1D22A | ENST00000337137.9 | c.149C>G | p.Thr50Ser | missense_variant | 3/13 | 1 | NM_014346.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249718Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135164
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461846Hom.: 0 Cov.: 32 AF XY: 0.0000330 AC XY: 24AN XY: 727224
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at