chrX-101278103-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001168474.2(TAF7L):c.523G>C(p.Val175Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000273 in 1,096,899 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V175M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001168474.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF7L | ENST00000356784.2 | c.523G>C | p.Val175Leu | missense_variant | Exon 8 of 13 | 1 | NM_001168474.2 | ENSP00000349235.1 | ||
TAF7L | ENST00000372907.7 | c.781G>C | p.Val261Leu | missense_variant | Exon 8 of 13 | 1 | ENSP00000361998.3 | |||
TAF7L | ENST00000324762.10 | c.523G>C | p.Val175Leu | missense_variant | Exon 7 of 11 | 2 | ENSP00000320283.6 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183097Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67585
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1096899Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 1AN XY: 362275
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.781G>C (p.V261L) alteration is located in exon 8 (coding exon 8) of the TAF7L gene. This alteration results from a G to C substitution at nucleotide position 781, causing the valine (V) at amino acid position 261 to be replaced by a leucine (L). 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