chr6-132553675-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053278.3(TAAR8):āc.983A>Cā(p.Asp328Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0665 in 1,609,538 control chromosomes in the GnomAD database, including 3,983 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_053278.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0564 AC: 8575AN: 152136Hom.: 318 Cov.: 32
GnomAD3 exomes AF: 0.0573 AC: 14186AN: 247436Hom.: 506 AF XY: 0.0587 AC XY: 7847AN XY: 133728
GnomAD4 exome AF: 0.0676 AC: 98522AN: 1457284Hom.: 3663 Cov.: 31 AF XY: 0.0672 AC XY: 48722AN XY: 724654
GnomAD4 genome AF: 0.0564 AC: 8589AN: 152254Hom.: 320 Cov.: 32 AF XY: 0.0562 AC XY: 4186AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at