1-151569700-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_020127.3(TUFT1):c.524C>T(p.Thr175Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0146 in 1,613,904 control chromosomes in the GnomAD database, including 236 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_020127.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00979 AC: 1489AN: 152160Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.0118 AC: 2968AN: 251392Hom.: 40 AF XY: 0.0130 AC XY: 1763AN XY: 135852
GnomAD4 exome AF: 0.0151 AC: 22028AN: 1461626Hom.: 225 Cov.: 31 AF XY: 0.0155 AC XY: 11254AN XY: 727106
GnomAD4 genome AF: 0.00980 AC: 1493AN: 152278Hom.: 11 Cov.: 32 AF XY: 0.0103 AC XY: 764AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:1
TUFT1: BP4, BS1, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at