rs761554639
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024116.4(TAF1D):c.421G>T(p.Glu141*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000142 in 1,411,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_024116.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF1D | NM_024116.4 | c.421G>T | p.Glu141* | stop_gained | Exon 3 of 6 | ENST00000448108.7 | NP_077021.1 | |
TAF1D | NR_146090.2 | n.622G>T | non_coding_transcript_exon_variant | Exon 3 of 14 | ||||
TAF1D | NR_146091.2 | n.622G>T | non_coding_transcript_exon_variant | Exon 3 of 14 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000483 AC: 1AN: 207164Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 113292
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1411582Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 701088
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at