chr17-3591067-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_080704.4(TRPV1):c.501C>A(p.His167Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,612,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. H167R) has been classified as Uncertain significance.
Frequency
Consequence
NM_080704.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPV1 | NM_080704.4 | c.501C>A | p.His167Gln | missense_variant | 5/17 | ENST00000572705.2 | |
TRPV1 | NM_018727.5 | c.501C>A | p.His167Gln | missense_variant | 4/16 | ||
TRPV1 | NM_080705.4 | c.501C>A | p.His167Gln | missense_variant | 4/16 | ||
TRPV1 | NM_080706.3 | c.501C>A | p.His167Gln | missense_variant | 3/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPV1 | ENST00000572705.2 | c.501C>A | p.His167Gln | missense_variant | 5/17 | 1 | NM_080704.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 246538Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133750
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460564Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726434
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74440
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at