rs772569204
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006453.3(TBL3):c.195C>A(p.Asp65Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_006453.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBL3 | ENST00000568546.6 | c.195C>A | p.Asp65Glu | missense_variant | Exon 4 of 22 | 1 | NM_006453.3 | ENSP00000454836.1 | ||
TBL3 | ENST00000561907.5 | n.211C>A | non_coding_transcript_exon_variant | Exon 4 of 6 | 2 | ENSP00000454735.1 | ||||
TBL3 | ENST00000569628.5 | n.363C>A | non_coding_transcript_exon_variant | Exon 3 of 21 | 2 | |||||
TBL3 | ENST00000332704.5 | c.-199C>A | upstream_gene_variant | 1 | ENSP00000331815.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248092Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134026
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457888Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 725034
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at