chr6-132570399-C-T
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_175067.1(TAAR6):c.78C>T(p.Pro26Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0464 in 1,614,040 control chromosomes in the GnomAD database, including 2,001 homozygotes. In-silico tool predicts 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 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0369 AC: 5612AN: 152122Hom.: 151 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0394 AC: 9880AN: 250990 AF XY: 0.0410 show subpopulations
GnomAD4 exome AF: 0.0474 AC: 69329AN: 1461800Hom.: 1850 Cov.: 31 AF XY: 0.0474 AC XY: 34491AN XY: 727200 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0369 AC: 5616AN: 152240Hom.: 151 Cov.: 32 AF XY: 0.0363 AC XY: 2699AN XY: 74432 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at