8-109087521-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_003301.7(TRHR):c.9C>T(p.Asn3Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000344 in 1,614,148 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_003301.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000690 AC: 173AN: 250874Hom.: 2 AF XY: 0.000914 AC XY: 124AN XY: 135638
GnomAD4 exome AF: 0.000354 AC: 518AN: 1461838Hom.: 4 Cov.: 31 AF XY: 0.000505 AC XY: 367AN XY: 727226
GnomAD4 genome AF: 0.000249 AC: 38AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74472
ClinVar
Submissions by phenotype
TRHR-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at