NM_005640.3:c.130G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005640.3(TAF4B):c.130G>A(p.Ala44Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005640.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF4B | ENST00000269142.10 | c.130G>A | p.Ala44Thr | missense_variant | Exon 1 of 15 | 1 | NM_005640.3 | ENSP00000269142.6 | ||
TAF4B | ENST00000578121.5 | c.130G>A | p.Ala44Thr | missense_variant | Exon 1 of 15 | 2 | ENSP00000462980.1 | |||
TAF4B | ENST00000418698.3 | n.130G>A | non_coding_transcript_exon_variant | Exon 1 of 16 | 5 | ENSP00000389365.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1443048Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718124
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at