chr11-8168916-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001206671.4(RIC3):c.74A>G(p.Lys25Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00157 in 1,611,858 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001206671.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIC3 | NM_001206671.4 | c.74A>G | p.Lys25Arg | missense_variant | 1/6 | ENST00000309737.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIC3 | ENST00000309737.11 | c.74A>G | p.Lys25Arg | missense_variant | 1/6 | 1 | NM_001206671.4 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00108 AC: 165AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00125 AC: 308AN: 247126Hom.: 0 AF XY: 0.00118 AC XY: 158AN XY: 134218
GnomAD4 exome AF: 0.00162 AC: 2367AN: 1459640Hom.: 4 Cov.: 31 AF XY: 0.00157 AC XY: 1141AN XY: 726166
GnomAD4 genome ? AF: 0.00108 AC: 165AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.00102 AC XY: 76AN XY: 74404
ClinVar
Submissions by phenotype
RIC3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 12, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at