rs4745062
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000354500.6(TRPM3):n.252+277305G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.405 in 151,964 control chromosomes in the GnomAD database, including 12,725 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000354500.6 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM3 | NM_001366141.2 | c.183+277305G>A | intron_variant | ||||
TRPM3 | NM_001366142.2 | c.183+277305G>A | intron_variant | ||||
TRPM3 | NM_001366143.2 | c.183+277305G>A | intron_variant | ||||
TRPM3 | NM_001366144.2 | c.183+277305G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM3 | ENST00000354500.6 | n.252+277305G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
TRPM3 | ENST00000357533.6 | c.183+277305G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.404 AC: 61403AN: 151846Hom.: 12704 Cov.: 32
GnomAD4 genome AF: 0.405 AC: 61471AN: 151964Hom.: 12725 Cov.: 32 AF XY: 0.412 AC XY: 30572AN XY: 74250
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at