rs2847092

Variant names:

• chr18-117100-G-A
• rs2847092
• ENST00000608049.5:n.526G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-117100-G-A
• chr18-117100-G-C

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The ENST00000608049.5(ROCK1P1):​n.526G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 25)
• Consequence: ROCK1P1 ENST00000608049.5 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.18
• Publications: 5 publications found

Genes affected

ROCK1P1 (HGNC:):

ROCK1P1 (HGNC:37832): (Rho associated coiled-coil containing protein kinase 1 pseudogene 1)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.43).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000608049.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ROCK1P1	NR_033770.1		n.526G>A		non_coding_transcript_exon	Exon 3 of 5
	ROCK1P1	NR_160777.1		n.594G>A		non_coding_transcript_exon	Exon 3 of 5
	ROCK1P1	NR_160778.1		n.341G>A		non_coding_transcript_exon	Exon 3 of 5

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ROCK1P1	ENST00000608049.5	TSL:1	n.526G>A		non_coding_transcript_exon	Exon 3 of 5
	ROCK1P1	ENST00000573767.1	TSL:6	n.137G>A		non_coding_transcript_exon	Exon 2 of 3
	ROCK1P1	ENST00000576266.7	TSL:4	n.628G>A		non_coding_transcript_exon	Exon 3 of 5

Frequencies

GnomAD3 genomes Cov.: 25

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 25

Alfa AF: 0.00 Hom.: 0

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.43
CADD	Benign	12
DANN	Benign	0.76
PhyloP100		3.2

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2847092; hg19: chr18-117100;