ENST00000558445.6:c.16C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000558445.6(TRPM1):c.16C>T(p.Arg6Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.133 in 1,534,778 control chromosomes in the GnomAD database, including 15,007 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000558445.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.105 AC: 15999AN: 152152Hom.: 1049 Cov.: 33
GnomAD3 exomes AF: 0.102 AC: 13117AN: 128012Hom.: 795 AF XY: 0.103 AC XY: 7251AN XY: 70094
GnomAD4 exome AF: 0.136 AC: 187827AN: 1382506Hom.: 13960 Cov.: 32 AF XY: 0.134 AC XY: 91470AN XY: 682198
GnomAD4 genome AF: 0.105 AC: 15990AN: 152272Hom.: 1047 Cov.: 33 AF XY: 0.105 AC XY: 7804AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at