X-30854485-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_152787.5(TAB3):c.1180C>T(p.Arg394Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000653 in 1,209,363 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 23 hemizygotes in GnomAD. 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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_152787.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAB3 | NM_152787.5 | c.1180C>T | p.Arg394Trp | missense_variant | 6/11 | ENST00000288422.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAB3 | ENST00000288422.4 | c.1180C>T | p.Arg394Trp | missense_variant | 6/11 | 5 | NM_152787.5 | P1 | |
TAB3-AS2 | ENST00000445240.1 | n.70G>A | non_coding_transcript_exon_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000359 AC: 4AN: 111544Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33728
GnomAD4 exome AF: 0.0000683 AC: 75AN: 1097819Hom.: 0 Cov.: 31 AF XY: 0.0000633 AC XY: 23AN XY: 363199
GnomAD4 genome AF: 0.0000359 AC: 4AN: 111544Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33728
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at