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GeneBe

CASC11

cancer susceptibility 11, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Links

ENSG00000249375NCBI:100270680OMIM:617704HGNC:48939GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CASC11 gene.

  • not provided (9 variants)
  • Neoplasm (5 variants)
  • Burkitt lymphoma (4 variants)
  • Non-Hodgkin lymphoma (3 variants)
  • Esophageal carcinoma (3 variants)
  • Neuroblastoma (3 variants)
  • Lung adenocarcinoma (3 variants)
  • Malignant melanoma of skin (3 variants)
  • Cholesteatoma of middle ear (2 variants)
  • Inborn genetic diseases (2 variants)
  • Premature ovarian failure (1 variants)
  • Classic Hodgkin lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASC11 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
3
clinvar
7
clinvar
5
clinvar
2
clinvar
5
clinvar
22
Total 3 7 5 2 5

Highest pathogenic variant AF is 0.00000658

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP