16-66755043-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001136505.2(TERB1):c.2117G>A(p.Arg706Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000606 in 1,551,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136505.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TERB1 | NM_001136505.2 | c.2117G>A | p.Arg706Gln | missense_variant | Exon 19 of 19 | ENST00000433154.6 | NP_001129977.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TERB1 | ENST00000433154.6 | c.2117G>A | p.Arg706Gln | missense_variant | Exon 19 of 19 | 5 | NM_001136505.2 | ENSP00000463762.1 | ||
TERB1 | ENST00000558713.6 | c.2117G>A | p.Arg706Gln | missense_variant | Exon 18 of 18 | 5 | ENSP00000462883.1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000649 AC: 1AN: 154054Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 81746
GnomAD4 exome AF: 0.0000579 AC: 81AN: 1399330Hom.: 0 Cov.: 31 AF XY: 0.0000638 AC XY: 44AN XY: 690176
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2117G>A (p.R706Q) alteration is located in exon 19 (coding exon 17) of the TERB1 gene. This alteration results from a G to A substitution at nucleotide position 2117, causing the arginine (R) at amino acid position 706 to be replaced by a glutamine (Q). 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