chr5-69365080-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_003187.5(TAF9):c.658G>A(p.Gly220Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,613,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003187.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF9 | NM_003187.5 | c.658G>A | p.Gly220Arg | missense_variant | Exon 3 of 3 | ENST00000217893.10 | NP_003178.1 | |
AK6 | NM_016283.5 | c.121+1423G>A | intron_variant | Intron 2 of 4 | ENST00000380822.9 | NP_057367.1 | ||
TAF9 | NM_001015892.2 | c.658G>A | p.Gly220Arg | missense_variant | Exon 3 of 3 | NP_001015892.1 | ||
AK6 | NM_001015891.2 | c.112+1423G>A | intron_variant | Intron 2 of 4 | NP_001015891.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF9 | ENST00000217893.10 | c.658G>A | p.Gly220Arg | missense_variant | Exon 3 of 3 | 1 | NM_003187.5 | ENSP00000217893.7 | ||
AK6 | ENST00000380822.9 | c.121+1423G>A | intron_variant | Intron 2 of 4 | 1 | NM_016283.5 | ENSP00000370201.4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152040Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727244
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152040Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.658G>A (p.G220R) alteration is located in exon 3 (coding exon 1) of the TAF9 gene. This alteration results from a G to A substitution at nucleotide position 658, causing the glycine (G) at amino acid position 220 to be replaced by an arginine (R). 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