rs55916885
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_080704.4(TRPV1):c.254A>G(p.Gln85Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0339 in 1,613,646 control chromosomes in the GnomAD database, including 1,089 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_080704.4 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 | UniProt |
---|---|---|---|---|---|---|---|
TRPV1 | NM_080704.4 | c.254A>G | p.Gln85Arg | missense_variant | 3/17 | ENST00000572705.2 | |
TRPV1 | NM_018727.5 | c.254A>G | p.Gln85Arg | missense_variant | 2/16 | ||
TRPV1 | NM_080705.4 | c.254A>G | p.Gln85Arg | missense_variant | 2/16 | ||
TRPV1 | NM_080706.3 | c.254A>G | p.Gln85Arg | missense_variant | 1/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPV1 | ENST00000572705.2 | c.254A>G | p.Gln85Arg | missense_variant | 3/17 | 1 | NM_080704.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0254 AC: 3868AN: 152142Hom.: 58 Cov.: 32
GnomAD3 exomes AF: 0.0280 AC: 6941AN: 247646Hom.: 122 AF XY: 0.0288 AC XY: 3880AN XY: 134510
GnomAD4 exome AF: 0.0348 AC: 50818AN: 1461388Hom.: 1031 Cov.: 32 AF XY: 0.0345 AC XY: 25056AN XY: 726968
GnomAD4 genome ? AF: 0.0254 AC: 3867AN: 152258Hom.: 58 Cov.: 32 AF XY: 0.0255 AC XY: 1901AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at