8-127193633-G-T

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2

The NR_120364.1(CASC19):​n.153+3842C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00484 in 151,392 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as association (no stars).

Frequency

Genomes: 𝑓 0.0048 ( 2 hom., cov: 30)

Consequence

CASC19
NR_120364.1 intron

Scores

2

Clinical Significance

association no assertion criteria provided O:1

Conservation

PhyloP100: -1.89
Variant links:
Genes affected
CASC19 (HGNC:49476): (cancer susceptibility 19)
PCAT1 (HGNC:43022): (prostate cancer associated transcript 1) This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.02).
BS2
High Homozygotes in GnomAd4 at 2 gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
CASC19NR_120364.1 linkn.153+3842C>A intron_variant Intron 1 of 2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
CASC19ENST00000641001.1 linkn.324-5518C>A intron_variant Intron 3 of 7
CASC19ENST00000641013.1 linkn.256-5518C>A intron_variant Intron 3 of 8
CASC19ENST00000641029.1 linkn.219-3651C>A intron_variant Intron 2 of 6

Frequencies

GnomAD3 genomes
AF:
0.00484
AC:
732
AN:
151278
Hom.:
2
Cov.:
30
show subpopulations
Gnomad AFR
AF:
0.00109
Gnomad AMI
AF:
0.00110
Gnomad AMR
AF:
0.00145
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.000582
Gnomad SAS
AF:
0.00229
Gnomad FIN
AF:
0.0145
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00730
Gnomad OTH
AF:
0.00145
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00484
AC:
732
AN:
151392
Hom.:
2
Cov.:
30
AF XY:
0.00507
AC XY:
375
AN XY:
73940
show subpopulations
Gnomad4 AFR
AF:
0.00109
Gnomad4 AMR
AF:
0.00145
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.000583
Gnomad4 SAS
AF:
0.00229
Gnomad4 FIN
AF:
0.0145
Gnomad4 NFE
AF:
0.00731
Gnomad4 OTH
AF:
0.00143
Alfa
AF:
0.00674
Hom.:
0

ClinVar

Significance: association
Submissions summary: Other:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

Familial prostate cancer Other:1
-
University of Washington Center for Mendelian Genomics, University of Washington
Significance: association
Review Status: no assertion criteria provided
Collection Method: research

- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
0.36
DANN
Benign
0.28

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: rs1428102803; hg19: chr8-128205878; API