NM_175067.1:c.518A>G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_175067.1(TAAR6):c.518A>G(p.Tyr173Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,614,134 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_175067.1 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00669 AC: 1018AN: 152158Hom.: 12 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00170 AC: 427AN: 250976 AF XY: 0.00121 show subpopulations
GnomAD4 exome AF: 0.000697 AC: 1019AN: 1461858Hom.: 8 Cov.: 31 AF XY: 0.000583 AC XY: 424AN XY: 727238 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00670 AC: 1020AN: 152276Hom.: 12 Cov.: 32 AF XY: 0.00653 AC XY: 486AN XY: 74460 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at