chr17-3577612-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_080704.4(TRPV1):c.1699G>A(p.Val567Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000203 in 1,579,334 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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 -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPV1 | NM_080704.4 | c.1699G>A | p.Val567Ile | missense_variant | 12/17 | ENST00000572705.2 | |
TRPV1 | NM_018727.5 | c.1699G>A | p.Val567Ile | missense_variant | 11/16 | ||
TRPV1 | NM_080705.4 | c.1699G>A | p.Val567Ile | missense_variant | 11/16 | ||
TRPV1 | NM_080706.3 | c.1699G>A | p.Val567Ile | missense_variant | 10/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPV1 | ENST00000572705.2 | c.1699G>A | p.Val567Ile | missense_variant | 12/17 | 1 | NM_080704.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000196 AC: 28AN: 1427074Hom.: 0 Cov.: 31 AF XY: 0.0000156 AC XY: 11AN XY: 706566
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 20, 2023 | The c.1699G>A (p.V567I) alteration is located in exon 10 (coding exon 10) of the TRPV1 gene. This alteration results from a G to A substitution at nucleotide position 1699, causing the valine (V) at amino acid position 567 to be replaced by an isoleucine (I). 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