GeneBe

CASC8

cancer susceptibility 8, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 8:127289667-127482139

Links

ENSG00000246228 ∙ NCBI:727677 ∙ OMIM:617701 ∙ HGNC:45129 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CASC8 gene.

  • Inborn genetic diseases (15 variants)
  • Familial prostate carcinoma (2 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASC8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
15
clinvar
1
clinvar
 16
Total 0 0 15 1 0

Variants in CASC8

This is a list of pathogenic ClinVar variants found in the CASC8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
8-127325027-T-TAC Familial prostate cancer association (-)979044
8-127415939-G-C not specified Uncertain significance (Sep 20, 2023)3216969
8-127416027-G-C not specified Uncertain significance (Jun 30, 2023)2609106
8-127416034-G-T not specified Uncertain significance (Jun 12, 2023)2559832
8-127416078-G-C not specified Uncertain significance (Dec 16, 2022)2371625
8-127416131-G-A not specified Uncertain significance (Jan 26, 2023)3216964
8-127416170-G-A not specified Uncertain significance (Mar 02, 2023)2472555
8-127416189-A-G not specified Uncertain significance (May 09, 2024)3309049
8-127416207-C-G not specified Uncertain significance (Mar 04, 2024)3216965
8-127416210-G-A not specified Uncertain significance (Mar 18, 2024)2405022
8-127416221-C-G not specified Uncertain significance (Apr 06, 2022)2350664
8-127416252-T-C not specified Uncertain significance (May 28, 2024)3309051
8-127416287-G-T not specified Uncertain significance (Jun 22, 2021)2389405
8-127416315-C-G not specified Uncertain significance (Jan 31, 2024)3216966
8-127416396-A-C not specified Uncertain significance (Aug 16, 2021)2245688
8-127416423-G-C not specified Uncertain significance (Mar 24, 2023)2529461
8-127416461-A-G not specified Uncertain significance (Apr 01, 2024)3309050
8-127416530-A-G not specified Uncertain significance (Aug 04, 2023)2596205
8-127416545-A-G not specified Uncertain significance (Apr 25, 2022)2302247
8-127416604-G-T not specified Uncertain significance (Jul 14, 2021)2236834
8-127416707-C-T not specified Uncertain significance (Jul 12, 2022)2361365
8-127416741-C-G not specified Uncertain significance (Apr 28, 2022)2286800
8-127416824-G-C not specified Uncertain significance (Jul 11, 2022)2359375
8-127416828-C-G not specified Uncertain significance (Feb 05, 2024)3216970
8-127416910-C-T Likely benign (Oct 01, 2022)2658808

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP