2-11194258-T-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_004850.5(ROCK2):āc.3606A>Cā(p.Ile1202=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000371 in 1,325,790 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_004850.5 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ROCK2 | NM_004850.5 | c.3606A>C | p.Ile1202= | splice_region_variant, synonymous_variant | 29/33 | ENST00000315872.11 | NP_004841.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ROCK2 | ENST00000315872.11 | c.3606A>C | p.Ile1202= | splice_region_variant, synonymous_variant | 29/33 | 1 | NM_004850.5 | ENSP00000317985 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000802 AC: 122AN: 152070Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00120 AC: 242AN: 201192Hom.: 3 AF XY: 0.00116 AC XY: 128AN XY: 110722
GnomAD4 exome AF: 0.000316 AC: 371AN: 1173602Hom.: 7 Cov.: 16 AF XY: 0.000334 AC XY: 196AN XY: 587078
GnomAD4 genome AF: 0.000795 AC: 121AN: 152188Hom.: 2 Cov.: 32 AF XY: 0.000941 AC XY: 70AN XY: 74422
ClinVar
Submissions by phenotype
ROCK2-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 07, 2019 | This variant is classified as 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