rs9389004
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_175057.4(TAAR9):c.832G>A(p.Ala278Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0449 in 1,563,556 control chromosomes in the GnomAD database, including 1,818 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_175057.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAAR9 | NM_175057.4 | c.832G>A | p.Ala278Thr | missense_variant | 1/1 | ENST00000434551.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAAR9 | ENST00000434551.3 | c.832G>A | p.Ala278Thr | missense_variant | 1/1 | NM_175057.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0372 AC: 5654AN: 152158Hom.: 160 Cov.: 32
GnomAD3 exomes AF: 0.0403 AC: 7860AN: 195240Hom.: 198 AF XY: 0.0413 AC XY: 4328AN XY: 104918
GnomAD4 exome AF: 0.0457 AC: 64533AN: 1411280Hom.: 1658 Cov.: 33 AF XY: 0.0457 AC XY: 31909AN XY: 698614
GnomAD4 genome ? AF: 0.0372 AC: 5658AN: 152276Hom.: 160 Cov.: 32 AF XY: 0.0381 AC XY: 2839AN XY: 74458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at