rs2193055

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000540802.2(ROCR):​n.1130-3595A>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.26 in 151,988 control chromosomes in the GnomAD database, including 6,071 homozygotes. 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: 𝑓 0.26 ( 6071 hom., cov: 31)

Consequence

ROCR
ENST00000540802.2 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.89
Variant links:
Genes affected
ROCR (HGNC:52946): (regulator of chondrogenesis RNA)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.479 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ROCRENST00000540802.2 linkuse as main transcriptn.1130-3595A>C intron_variant, non_coding_transcript_variant 4

Frequencies

GnomAD3 genomes
AF:
0.260
AC:
39516
AN:
151868
Hom.:
6050
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.404
Gnomad AMI
AF:
0.225
Gnomad AMR
AF:
0.174
Gnomad ASJ
AF:
0.169
Gnomad EAS
AF:
0.496
Gnomad SAS
AF:
0.344
Gnomad FIN
AF:
0.167
Gnomad MID
AF:
0.234
Gnomad NFE
AF:
0.189
Gnomad OTH
AF:
0.233
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.260
AC:
39576
AN:
151988
Hom.:
6071
Cov.:
31
AF XY:
0.259
AC XY:
19272
AN XY:
74292
show subpopulations
Gnomad4 AFR
AF:
0.404
Gnomad4 AMR
AF:
0.174
Gnomad4 ASJ
AF:
0.169
Gnomad4 EAS
AF:
0.495
Gnomad4 SAS
AF:
0.344
Gnomad4 FIN
AF:
0.167
Gnomad4 NFE
AF:
0.189
Gnomad4 OTH
AF:
0.239
Alfa
AF:
0.209
Hom.:
864
Bravo
AF:
0.264
Asia WGS
AF:
0.486
AC:
1688
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
0.064
DANN
Benign
0.41

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2193055; hg19: chr17-70025713; API