CASC11

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

Basic information

Region (hg38): 8:127686343-127739022

Links

ENSG00000249375 ∙ NCBI:100270680 ∙ OMIM:617704 ∙ HGNC:48939 ∙ ∙ ∙ 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 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	7	5	2	5	22
Total	3	7	5	2	5

Highest pathogenic variant AF is 0.00000658

Variants in CASC11

This is a list of pathogenic ClinVar variants found in the CASC11 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-127734306-T-C			Benign (Jan 01, 2023)
8-127736331-G-A			Likely benign (Sep 01, 2023)
8-127736498-C-T			Benign (Mar 01, 2023)
8-127736627-A-T			Uncertain significance (Sep 01, 2023)
8-127737223-C-T			Benign (Oct 01, 2023)
8-127738076-G-A			Benign (Nov 01, 2022)
8-127738281-T-C			Benign/Likely benign (Jan 01, 2023)
8-127738294-A-G		Classic Hodgkin lymphoma • MYC-related disorder	Uncertain significance (Oct 01, 2021)
8-127738361-G-A			Benign (May 31, 2018)
8-127738379-G-C		Burkitt lymphoma	Pathogenic (Sep 01, 1993)
8-127738386-C-T		Neoplasm	Likely pathogenic (Jul 14, 2015)
8-127738390-C-T		Non-Hodgkin lymphoma • Carcinoma of esophagus • Lung adenocarcinoma • Malignant melanoma of skin • Neuroblastoma	Likely pathogenic (May 31, 2016)
8-127738393-C-T		Neoplasm	Likely pathogenic (Jul 14, 2015)
8-127738431-C-T		Burkitt lymphoma	Pathogenic (Sep 01, 1993)
8-127738434-A-C		Neuroblastoma • Non-Hodgkin lymphoma • Malignant melanoma of skin • Carcinoma of esophagus • Lung adenocarcinoma	Likely pathogenic (May 31, 2016)
8-127738434-A-G		Acute myeloid leukemia	Pathogenic (Jul 01, 2023)
8-127738435-C-T		Non-Hodgkin lymphoma • Neoplasm • Lung adenocarcinoma • Malignant melanoma of skin • Carcinoma of esophagus • Neuroblastoma	Likely pathogenic (May 31, 2016)
8-127738437-C-G		Burkitt lymphoma • Cholesteatoma of middle ear • Neoplasm	other (-)
8-127738440-C-A		Cholesteatoma of middle ear	other (-)
8-127738447-C-T		Neoplasm	Likely pathogenic (Jul 14, 2015)
8-127738519-A-C		Burkitt lymphoma • Neoplasm	Pathogenic/Likely pathogenic (Jul 14, 2015)
8-127738626-G-C		not specified	Uncertain significance (May 01, 2022)
8-127738655-G-A		MYC-related disorder	Likely benign (Feb 22, 2019)
8-127738695-G-A		Premature ovarian failure	Uncertain significance (Mar 02, 2020)
8-127738761-G-A		not specified	Uncertain significance (Jun 10, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP