rs12212092
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006778.4(TRIM10):c.194G>A(p.Arg65His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0696 in 1,614,092 control chromosomes in the GnomAD database, including 5,292 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_006778.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM10 | NM_006778.4 | c.194G>A | p.Arg65His | missense_variant | 1/7 | ENST00000449742.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM10 | ENST00000449742.7 | c.194G>A | p.Arg65His | missense_variant | 1/7 | 1 | NM_006778.4 | P1 | |
TRIM10 | ENST00000376704.3 | c.194G>A | p.Arg65His | missense_variant | 1/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.106 AC: 16084AN: 152080Hom.: 1326 Cov.: 32
GnomAD3 exomes AF: 0.0663 AC: 16667AN: 251484Hom.: 883 AF XY: 0.0632 AC XY: 8589AN XY: 135918
GnomAD4 exome AF: 0.0658 AC: 96207AN: 1461894Hom.: 3964 Cov.: 32 AF XY: 0.0644 AC XY: 46831AN XY: 727248
GnomAD4 genome ? AF: 0.106 AC: 16109AN: 152198Hom.: 1328 Cov.: 32 AF XY: 0.102 AC XY: 7558AN XY: 74430
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at