chr15-31160944-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The ENST00000558445.6(TRPM1):c.16C>A(p.Arg6=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,383,148 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000558445.6 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM1 | NM_001252020.2 | c.16C>A | p.Arg6= | synonymous_variant | 1/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM1 | ENST00000558445.6 | c.16C>A | p.Arg6= | synonymous_variant | 1/27 | 1 | A2 | ||
TRPM1 | ENST00000559177.6 | c.16C>A | p.Arg6= | synonymous_variant | 1/8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000781 AC: 1AN: 128012Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 70094
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1383148Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 682482
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at