20-62003781-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_003185.4(TAF4):c.2321G>A(p.Arg774Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000622 in 1,608,678 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003185.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAF4 | NM_003185.4 | c.2321G>A | p.Arg774Gln | missense_variant | 8/15 | ENST00000252996.9 | |
TAF4 | XM_047440429.1 | c.1205G>A | p.Arg402Gln | missense_variant | 9/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAF4 | ENST00000252996.9 | c.2321G>A | p.Arg774Gln | missense_variant | 8/15 | 1 | NM_003185.4 | P1 | |
TAF4 | ENST00000488539.1 | c.326G>A | p.Arg109Gln | missense_variant | 3/5 | 5 | |||
TAF4 | ENST00000436129.2 | n.692G>A | non_coding_transcript_exon_variant | 4/11 | 2 | ||||
TAF4 | ENST00000692470.1 | c.197G>A | p.Arg66Gln | missense_variant, NMD_transcript_variant | 2/10 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 244600Hom.: 0 AF XY: 0.00000752 AC XY: 1AN XY: 133026
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1456476Hom.: 0 Cov.: 31 AF XY: 0.00000690 AC XY: 5AN XY: 724720
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2021 | The c.2321G>A (p.R774Q) alteration is located in exon 8 (coding exon 8) of the TAF4 gene. This alteration results from a G to A substitution at nucleotide position 2321, causing the arginine (R) at amino acid position 774 to be replaced by a glutamine (Q). 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