7-5308915-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080495.3(TNRC18):c.8660C>T(p.Ala2887Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000447 in 1,387,098 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_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.8660C>T | p.Ala2887Val | missense_variant | Exon 29 of 30 | 5 | NM_001080495.3 | ENSP00000395538.1 | ||
TNRC18 | ENST00000399537.8 | c.8660C>T | p.Ala2887Val | missense_variant | Exon 29 of 30 | 5 | ENSP00000382452.4 |
Frequencies
GnomAD3 genomes AF: 0.000143 AC: 20AN: 139866Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000641 AC: 15AN: 233896Hom.: 0 AF XY: 0.0000547 AC XY: 7AN XY: 128064
GnomAD4 exome AF: 0.0000337 AC: 42AN: 1247106Hom.: 0 Cov.: 36 AF XY: 0.0000227 AC XY: 14AN XY: 617778
GnomAD4 genome AF: 0.000143 AC: 20AN: 139992Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 10AN XY: 67572
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8660C>T (p.A2887V) alteration is located in exon 29 (coding exon 28) of the TNRC18 gene. This alteration results from a C to T substitution at nucleotide position 8660, causing the alanine (A) at amino acid position 2887 to be replaced by a valine (V). 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