2-11201419-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_004850.5(ROCK2):c.2620-6A>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000611 in 1,453,664 control chromosomes in the GnomAD database, including 4 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 (★).
Frequency
Consequence
NM_004850.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROCK2 | NM_004850.5 | c.2620-6A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000315872.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROCK2 | ENST00000315872.11 | c.2620-6A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_004850.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00303 AC: 461AN: 152216Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000748 AC: 184AN: 246000Hom.: 0 AF XY: 0.000592 AC XY: 79AN XY: 133550
GnomAD4 exome AF: 0.000327 AC: 426AN: 1301330Hom.: 2 Cov.: 21 AF XY: 0.000261 AC XY: 171AN XY: 655504
GnomAD4 genome AF: 0.00303 AC: 462AN: 152334Hom.: 2 Cov.: 32 AF XY: 0.00299 AC XY: 223AN XY: 74494
ClinVar
Submissions by phenotype
ROCK2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 05, 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