7-73570853-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012453.4(TBL2):c.998C>T(p.Ala333Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000057 in 1,613,552 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (★).
Frequency
Consequence
NM_012453.4 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 |
---|---|---|---|---|---|---|---|
TBL2 | NM_012453.4 | c.998C>T | p.Ala333Val | missense_variant | 7/7 | ENST00000305632.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBL2 | ENST00000305632.11 | c.998C>T | p.Ala333Val | missense_variant | 7/7 | 1 | NM_012453.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250276Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135580
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461354Hom.: 1 Cov.: 32 AF XY: 0.0000426 AC XY: 31AN XY: 726982
GnomAD4 genome AF: 0.000112 AC: 17AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at