rs748046539
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001252024.2(TRPM1):āc.3174T>Cā(p.Asp1058=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,984 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
NM_001252024.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM1 | NM_001252024.2 | c.3174T>C | p.Asp1058= | synonymous_variant | 25/28 | ENST00000256552.11 | |
LOC105370752 | XR_932055.2 | n.278+1340A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM1 | ENST00000256552.11 | c.3174T>C | p.Asp1058= | synonymous_variant | 25/28 | 1 | NM_001252024.2 | P4 | |
ENST00000665655.1 | n.218+1340A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249582Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135408
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461804Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727200
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at