chrX-101277702-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001168474.2(TAF7L):c.595G>A(p.Glu199Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000913 in 109,508 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF7L | ENST00000356784.2 | c.595G>A | p.Glu199Lys | missense_variant | Exon 9 of 13 | 1 | NM_001168474.2 | ENSP00000349235.1 | ||
TAF7L | ENST00000372907.7 | c.853G>A | p.Glu285Lys | missense_variant | Exon 9 of 13 | 1 | ENSP00000361998.3 | |||
TAF7L | ENST00000324762.10 | c.595G>A | p.Glu199Lys | missense_variant | Exon 8 of 11 | 2 | ENSP00000320283.6 |
Frequencies
GnomAD3 genomes AF: 0.00000913 AC: 1AN: 109508Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31780
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1085370Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 351894
GnomAD4 genome AF: 0.00000913 AC: 1AN: 109508Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 31780
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.853G>A (p.E285K) alteration is located in exon 9 (coding exon 9) of the TAF7L gene. This alteration results from a G to A substitution at nucleotide position 853, causing the glutamic acid (E) at amino acid position 285 to be replaced by a lysine (K). 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