11-62775884-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006473.4(TAF6L):c.101C>T(p.Ala34Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,613,848 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006473.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF6L | NM_006473.4 | c.101C>T | p.Ala34Val | missense_variant | Exon 2 of 11 | ENST00000294168.8 | NP_006464.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250386Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135410
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461668Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727146
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.101C>T (p.A34V) alteration is located in exon 2 (coding exon 1) of the TAF6L gene. This alteration results from a C to T substitution at nucleotide position 101, causing the alanine (A) at amino acid position 34 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at