NM_007332.3:c.2490G>A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_007332.3(TRPA1):c.2490G>A(p.Leu830Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0898 in 1,613,898 control chromosomes in the GnomAD database, including 7,458 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_007332.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0685 AC: 10431AN: 152168Hom.: 527 Cov.: 32
GnomAD3 exomes AF: 0.0773 AC: 19404AN: 251124Hom.: 956 AF XY: 0.0826 AC XY: 11215AN XY: 135738
GnomAD4 exome AF: 0.0920 AC: 134503AN: 1461612Hom.: 6932 Cov.: 32 AF XY: 0.0935 AC XY: 67993AN XY: 727112
GnomAD4 genome AF: 0.0685 AC: 10430AN: 152286Hom.: 526 Cov.: 32 AF XY: 0.0673 AC XY: 5008AN XY: 74464
ClinVar
Submissions by phenotype
TRPA1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at