2-11194301-T-C
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM2PP3
The NM_004850.5(ROCK2):c.3563A>G(p.Glu1188Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ROCK2
NM_004850.5 missense
NM_004850.5 missense
Scores
8
8
2
Clinical Significance
Conservation
PhyloP100: 8.01
Publications
0 publications found
Genes affected
ROCK2 (HGNC:10252): (Rho associated coiled-coil containing protein kinase 2) The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]
ROCK2 Gene-Disease associations (from GenCC):
- congenital heart diseaseInheritance: AD Classification: MODERATE, LIMITED Submitted by: ClinGen, PanelApp Australia
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP3
MetaRNN computational evidence supports a deleterious effect, 0.753
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_004850.5. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ROCK2 | TSL:1 MANE Select | c.3563A>G | p.Glu1188Gly | missense | Exon 29 of 33 | ENSP00000317985.6 | O75116 | ||
| ROCK2 | TSL:1 | c.2834A>G | p.Glu945Gly | missense | Exon 25 of 29 | ENSP00000385509.1 | E9PF63 | ||
| ROCK2 | c.3740A>G | p.Glu1247Gly | missense | Exon 30 of 34 | ENSP00000614948.1 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1329696Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 660218
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1329696
Hom.:
Cov.:
22
AF XY:
AC XY:
0
AN XY:
660218
African (AFR)
AF:
AC:
0
AN:
30224
American (AMR)
AF:
AC:
0
AN:
39196
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
23872
East Asian (EAS)
AF:
AC:
0
AN:
36910
South Asian (SAS)
AF:
AC:
0
AN:
65740
European-Finnish (FIN)
AF:
AC:
0
AN:
49824
Middle Eastern (MID)
AF:
AC:
0
AN:
5390
European-Non Finnish (NFE)
AF:
AC:
0
AN:
1023920
Other (OTH)
AF:
AC:
0
AN:
54620
GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
ClinVar submissions
View on ClinVar Significance:Uncertain significance
Revision:criteria provided, single submitter
Pathogenic
VUS
Benign
Condition
-
1
-
not specified (1)
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
BayesDel_addAF
Uncertain
D
BayesDel_noAF
Uncertain
DANN
Pathogenic
DEOGEN2
Uncertain
T
Eigen
Pathogenic
Eigen_PC
Pathogenic
FATHMM_MKL
Pathogenic
D
LIST_S2
Pathogenic
D
M_CAP
Benign
D
MetaRNN
Pathogenic
D
MetaSVM
Benign
T
MutationAssessor
Uncertain
M
PhyloP100
PrimateAI
Pathogenic
D
PROVEAN
Pathogenic
D
REVEL
Uncertain
Sift
Uncertain
D
Sift4G
Uncertain
D
Polyphen
D
Vest4
MutPred
Gain of ubiquitination at K1191 (P = 0.0707)
MVP
MPC
ClinPred
D
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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