chr18-21023673-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_005406.3(ROCK1):c.1219T>C(p.Ser407Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000337 in 1,571,462 control chromosomes in the GnomAD database, including 1 homozygotes. 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_005406.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROCK1 | NM_005406.3 | c.1219T>C | p.Ser407Pro | missense_variant | 11/33 | ENST00000399799.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROCK1 | ENST00000399799.3 | c.1219T>C | p.Ser407Pro | missense_variant | 11/33 | 1 | NM_005406.3 | P1 | |
ROCK1 | ENST00000635540.2 | c.1219T>C | p.Ser407Pro | missense_variant, NMD_transcript_variant | 11/34 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000520 AC: 12AN: 230728Hom.: 0 AF XY: 0.0000799 AC XY: 10AN XY: 125200
GnomAD4 exome AF: 0.0000366 AC: 52AN: 1419278Hom.: 1 Cov.: 24 AF XY: 0.0000453 AC XY: 32AN XY: 706836
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 30, 2022 | The c.1219T>C (p.S407P) alteration is located in exon 11 (coding exon 11) of the ROCK1 gene. This alteration results from a T to C substitution at nucleotide position 1219, causing the serine (S) at amino acid position 407 to be replaced by a proline (P). 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