X-71366402-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_004606.5(TAF1):āc.28T>Gā(p.Ser10Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000332 in 1,206,504 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004606.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAF1 | NM_004606.5 | c.28T>G | p.Ser10Ala | missense_variant | 1/38 | ENST00000423759.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAF1 | ENST00000423759.6 | c.28T>G | p.Ser10Ala | missense_variant | 1/38 | 5 | NM_004606.5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000921 AC: 1AN: 108575Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 30965
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097929Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 363343
GnomAD4 genome AF: 0.00000921 AC: 1AN: 108575Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 30965
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | May 01, 2023 | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at