2-11208403-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_004850.5(ROCK2):c.2248G>T(p.Val750Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000258 in 1,551,792 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004850.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ROCK2 | NM_004850.5 | c.2248G>T | p.Val750Leu | missense_variant | 19/33 | ENST00000315872.11 | NP_004841.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ROCK2 | ENST00000315872.11 | c.2248G>T | p.Val750Leu | missense_variant | 19/33 | 1 | NM_004850.5 | ENSP00000317985.6 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151944Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000421 AC: 1AN: 237774Hom.: 0 AF XY: 0.00000773 AC XY: 1AN XY: 129364
GnomAD4 exome AF: 7.14e-7 AC: 1AN: 1399730Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 694984
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152062Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 31, 2023 | The c.2248G>T (p.V750L) alteration is located in exon 19 (coding exon 19) of the ROCK2 gene. This alteration results from a G to T substitution at nucleotide position 2248, causing the valine (V) at amino acid position 750 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at