NM_005406.3:c.3864T>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005406.3(ROCK1):c.3864T>G(p.Asp1288Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ROCK1 | ENST00000399799.3 | c.3864T>G | p.Asp1288Glu | missense_variant | Exon 32 of 33 | 1 | NM_005406.3 | ENSP00000382697.1 | ||
ROCK1 | ENST00000578051.1 | c.99T>G | p.Asp33Glu | missense_variant | Exon 2 of 2 | 2 | ENSP00000462004.1 | |||
ROCK1 | ENST00000635540.2 | n.*499T>G | non_coding_transcript_exon_variant | Exon 33 of 34 | 5 | ENSP00000489185.1 | ||||
ROCK1 | ENST00000635540.2 | n.*499T>G | 3_prime_UTR_variant | Exon 33 of 34 | 5 | ENSP00000489185.1 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 17
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3864T>G (p.D1288E) alteration is located in exon 32 (coding exon 32) of the ROCK1 gene. This alteration results from a T to G substitution at nucleotide position 3864, causing the aspartic acid (D) at amino acid position 1288 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.