chr17-75891189-C-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_173547.4(TRIM65):c.1144G>A(p.Gly382Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00073 in 1,611,370 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173547.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000519 AC: 79AN: 152078Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000377 AC: 92AN: 244210 AF XY: 0.000330 show subpopulations
GnomAD4 exome AF: 0.000752 AC: 1098AN: 1459176Hom.: 2 Cov.: 33 AF XY: 0.000689 AC XY: 500AN XY: 726068 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000519 AC: 79AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.000537 AC XY: 40AN XY: 74420 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1144G>A (p.G382R) alteration is located in exon 6 (coding exon 6) of the TRIM65 gene. This alteration results from a G to A substitution at nucleotide position 1144, causing the glycine (G) at amino acid position 382 to be replaced by an arginine (R). 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