3-129976902-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007117.5(TRH):c.415C>T(p.Arg139Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000075 in 1,613,344 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007117.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000594 AC: 9AN: 151576Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251274Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135864
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461768Hom.: 0 Cov.: 97 AF XY: 0.0000688 AC XY: 50AN XY: 727186
GnomAD4 genome AF: 0.0000594 AC: 9AN: 151576Hom.: 0 Cov.: 31 AF XY: 0.0000541 AC XY: 4AN XY: 73980
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.415C>T (p.R139W) alteration is located in exon 3 (coding exon 2) of the TRH gene. This alteration results from a C to T substitution at nucleotide position 415, causing the arginine (R) at amino acid position 139 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at