rs5663
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_007117.5(TRH):c.711A>C(p.Arg237Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R237R) has been classified as Benign.
Frequency
Consequence
NM_007117.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRH | NM_007117.5 | c.711A>C | p.Arg237Ser | missense_variant | 3/3 | ENST00000302649.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRH | ENST00000302649.4 | c.711A>C | p.Arg237Ser | missense_variant | 3/3 | 1 | NM_007117.5 | P2 | |
TRH | ENST00000507066.1 | c.699A>C | p.Arg233Ser | missense_variant | 3/3 | 5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1366474Hom.: 0 Cov.: 82 AF XY: 0.00 AC XY: 0AN XY: 669680
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at