rs961787611
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003187.5(TAF9):āc.658G>Cā(p.Gly220Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_003187.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF9 | NM_003187.5 | c.658G>C | p.Gly220Arg | missense_variant | Exon 3 of 3 | ENST00000217893.10 | NP_003178.1 | |
AK6 | NM_016283.5 | c.121+1423G>C | intron_variant | Intron 2 of 4 | ENST00000380822.9 | NP_057367.1 | ||
TAF9 | NM_001015892.2 | c.658G>C | p.Gly220Arg | missense_variant | Exon 3 of 3 | NP_001015892.1 | ||
AK6 | NM_001015891.2 | c.112+1423G>C | 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>C | p.Gly220Arg | missense_variant | Exon 3 of 3 | 1 | NM_003187.5 | ENSP00000217893.7 | ||
AK6 | ENST00000380822.9 | c.121+1423G>C | intron_variant | Intron 2 of 4 | 1 | NM_016283.5 | ENSP00000370201.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.