chr2-95481618-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001164464.2(TRIM43B):c.484A>G(p.Arg162Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000993 in 1,460,204 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164464.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 28AN: 151962Hom.: 0 Cov.: 30 FAILED QC
GnomAD3 exomes AF: 0.000129 AC: 32AN: 248542Hom.: 1 AF XY: 0.000134 AC XY: 18AN XY: 134606
GnomAD4 exome AF: 0.0000993 AC: 145AN: 1460204Hom.: 2 Cov.: 30 AF XY: 0.000105 AC XY: 76AN XY: 726286
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000191 AC: 29AN: 152078Hom.: 0 Cov.: 30 AF XY: 0.000229 AC XY: 17AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.484A>G (p.R162G) alteration is located in exon 3 (coding exon 2) of the TRIM43B gene. This alteration results from a A to G substitution at nucleotide position 484, causing the arginine (R) at amino acid position 162 to be replaced by a glycine (G). 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