17-3572182-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_080704.4(TRPV1):c.2171G>A(p.Gly724Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRPV1 | NM_080704.4 | c.2171G>A | p.Gly724Asp | missense_variant | Exon 15 of 17 | ENST00000572705.2 | NP_542435.2 | |
TRPV1 | NM_018727.5 | c.2171G>A | p.Gly724Asp | missense_variant | Exon 14 of 16 | NP_061197.4 | ||
TRPV1 | NM_080705.4 | c.2171G>A | p.Gly724Asp | missense_variant | Exon 14 of 16 | NP_542436.2 | ||
TRPV1 | NM_080706.3 | c.2171G>A | p.Gly724Asp | missense_variant | Exon 13 of 15 | NP_542437.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248076Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134560
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461088Hom.: 0 Cov.: 66 AF XY: 0.00000550 AC XY: 4AN XY: 726752
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2171G>A (p.G724D) alteration is located in exon 13 (coding exon 13) of the TRPV1 gene. This alteration results from a G to A substitution at nucleotide position 2171, causing the glycine (G) at amino acid position 724 to be replaced by an aspartic acid (D). 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