11-5610891-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000380097.8(TRIM6):āc.1100A>Gā(p.His367Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00481 in 1,614,212 control chromosomes in the GnomAD database, including 49 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
ENST00000380097.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM6 | NM_001003818.3 | c.1100A>G | p.His367Arg | missense_variant | 8/8 | ENST00000380097.8 | NP_001003818.1 | |
TRIM6-TRIM34 | NM_001003819.4 | c.985+330A>G | intron_variant | NP_001003819.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM6 | ENST00000380097.8 | c.1100A>G | p.His367Arg | missense_variant | 8/8 | 1 | NM_001003818.3 | ENSP00000369440 |
Frequencies
GnomAD3 genomes AF: 0.00350 AC: 533AN: 152204Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00409 AC: 1028AN: 251492Hom.: 9 AF XY: 0.00457 AC XY: 621AN XY: 135920
GnomAD4 exome AF: 0.00495 AC: 7235AN: 1461890Hom.: 46 Cov.: 34 AF XY: 0.00520 AC XY: 3785AN XY: 727248
GnomAD4 genome AF: 0.00349 AC: 532AN: 152322Hom.: 3 Cov.: 32 AF XY: 0.00326 AC XY: 243AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | TRIM6: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at