rs8192625
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_175067.1(TAAR6):c.872G>A(p.Cys291Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0693 in 1,613,852 control chromosomes in the GnomAD database, including 4,185 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_175067.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAAR6 | NM_175067.1 | c.872G>A | p.Cys291Tyr | missense_variant | 1/1 | ENST00000275198.1 | NP_778237.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAAR6 | ENST00000275198.1 | c.872G>A | p.Cys291Tyr | missense_variant | 1/1 | NM_175067.1 | ENSP00000275198 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0766 AC: 11636AN: 151984Hom.: 467 Cov.: 32
GnomAD3 exomes AF: 0.0619 AC: 15536AN: 250970Hom.: 609 AF XY: 0.0629 AC XY: 8533AN XY: 135630
GnomAD4 exome AF: 0.0686 AC: 100204AN: 1461750Hom.: 3718 Cov.: 32 AF XY: 0.0685 AC XY: 49791AN XY: 727186
GnomAD4 genome AF: 0.0766 AC: 11645AN: 152102Hom.: 467 Cov.: 32 AF XY: 0.0754 AC XY: 5607AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at