7-5308196-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080495.3(TNRC18):āc.8817G>Cā(p.Gln2939His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000317 in 1,608,192 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 (ā ).
Frequency
Consequence
NM_001080495.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNRC18 | ENST00000430969.6 | c.8817G>C | p.Gln2939His | missense_variant | Exon 30 of 30 | 5 | NM_001080495.3 | ENSP00000395538.1 | ||
TNRC18 | ENST00000399537.8 | c.8817G>C | p.Gln2939His | missense_variant | Exon 30 of 30 | 5 | ENSP00000382452.4 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000788 AC: 19AN: 241238Hom.: 0 AF XY: 0.0000686 AC XY: 9AN XY: 131178
GnomAD4 exome AF: 0.0000316 AC: 46AN: 1455990Hom.: 0 Cov.: 34 AF XY: 0.0000318 AC XY: 23AN XY: 723850
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8817G>C (p.Q2939H) alteration is located in exon 30 (coding exon 29) of the TNRC18 gene. This alteration results from a G to C substitution at nucleotide position 8817, causing the glutamine (Q) at amino acid position 2939 to be replaced by a histidine (H). 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