17-3566927-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_080704.4(TRPV1):c.2408G>A(p.Arg803Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000041 in 1,461,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080704.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRPV1 | NM_080704.4 | c.2408G>A | p.Arg803Gln | missense_variant | Exon 17 of 17 | ENST00000572705.2 | NP_542435.2 | |
TRPV1 | NM_018727.5 | c.2408G>A | p.Arg803Gln | missense_variant | Exon 16 of 16 | NP_061197.4 | ||
TRPV1 | NM_080705.4 | c.2408G>A | p.Arg803Gln | missense_variant | Exon 16 of 16 | NP_542436.2 | ||
TRPV1 | NM_080706.3 | c.2408G>A | p.Arg803Gln | missense_variant | Exon 15 of 15 | NP_542437.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249130Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135180
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461670Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727120
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2408G>A (p.R803Q) alteration is located in exon 15 (coding exon 15) of the TRPV1 gene. This alteration results from a G to A substitution at nucleotide position 2408, causing the arginine (R) at amino acid position 803 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at