rs6972
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000714.6(TSPO):c.485G>A(p.Arg162His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.24 in 1,587,552 control chromosomes in the GnomAD database, including 47,534 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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_000714.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TSPO | NM_000714.6 | c.485G>A | p.Arg162His | missense_variant | 4/4 | ENST00000337554.8 | NP_000705.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSPO | ENST00000337554.8 | c.485G>A | p.Arg162His | missense_variant | 4/4 | 1 | NM_000714.6 | ENSP00000338004.3 | ||
TSPO | ENST00000583777.5 | c.173G>A | p.Arg58His | missense_variant | 3/3 | 1 | ENSP00000463495.1 | |||
TSPO | ENST00000329563.8 | c.485G>A | p.Arg162His | missense_variant | 4/4 | 3 | ENSP00000328973.4 | |||
TSPO | ENST00000396265.4 | c.485G>A | p.Arg162His | missense_variant | 4/4 | 5 | ENSP00000379563.4 |
Frequencies
GnomAD3 genomes AF: 0.194 AC: 29519AN: 152122Hom.: 3334 Cov.: 34
GnomAD3 exomes AF: 0.232 AC: 47924AN: 206152Hom.: 5798 AF XY: 0.243 AC XY: 27196AN XY: 112048
GnomAD4 exome AF: 0.245 AC: 351214AN: 1435312Hom.: 44196 Cov.: 38 AF XY: 0.248 AC XY: 176529AN XY: 711958
GnomAD4 genome AF: 0.194 AC: 29530AN: 152240Hom.: 3338 Cov.: 34 AF XY: 0.195 AC XY: 14532AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at