CDKN2B-AS1

CDKN2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:21994139-22212895

Previous symbols: [ "CDKN2BAS" ]

Links

ENSG00000240498 ∙ NCBI:100048912 ∙ OMIM:613149 ∙ HGNC:34341 ∙ ∙ ∙ 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 CDKN2B-AS1 gene.

• Familial melanoma (160 variants)
• Hereditary cancer-predisposing syndrome (146 variants)
• not provided (47 variants)
• not specified (32 variants)
• Melanoma-pancreatic cancer syndrome (12 variants)
• Melanoma and neural system tumor syndrome (9 variants)
• Three Vessel Coronary Disease (9 variants)
• Malignant tumor of breast (5 variants)
• Inborn genetic diseases (5 variants)
• Melanoma, cutaneous malignant, susceptibility to, 2 (4 variants)
• Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2 (1 variants)
• Acute lymphoid leukemia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDKN2B-AS1 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	13	159	81	7	263
Total	3	13	159	81	7

Variants in CDKN2B-AS1

This is a list of pathogenic ClinVar variants found in the CDKN2B-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-21994140-T-A		Hereditary cancer-predisposing syndrome • Familial melanoma	Uncertain significance (Aug 12, 2021)
9-21994140-T-C		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 14, 2023)
9-21994141-G-A		Familial melanoma	Uncertain significance (Jul 13, 2021)
9-21994141-G-C		Hereditary cancer-predisposing syndrome • Familial melanoma	Uncertain significance (Jul 12, 2023)
9-21994141-G-T		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 14, 2023)
9-21994142-G-T			Uncertain significance (Apr 04, 2023)
9-21994142-GTCT-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 25, 2020)
9-21994142-G-GTCT		Melanoma, cutaneous malignant, susceptibility to, 2	risk factor (Jun 01, 2001)
9-21994144-C-A		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 26, 2022)
9-21994144-C-T		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 21, 2023)
9-21994144-CT-C		Familial melanoma • Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity (May 01, 2023)
9-21994145-T-G		Hereditary cancer-predisposing syndrome • Familial melanoma	Conflicting classifications of pathogenicity (Jan 17, 2024)
9-21994147-C-A		Familial melanoma • Hereditary cancer-predisposing syndrome • Melanoma and neural system tumor syndrome	Uncertain significance (Apr 30, 2024)
9-21994148-T-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 17, 2023)
9-21994150-G-A		Familial melanoma	Uncertain significance (Jul 14, 2021)
9-21994150-G-C		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 01, 2022)
9-21994151-G-A		Familial melanoma	Uncertain significance (Jul 14, 2021)
9-21994152-AAGCGGCT-TCGTCTA		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 19, 2021)
9-21994154-G-A		Familial melanoma	Uncertain significance (May 25, 2019)
9-21994154-G-T		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 24, 2022)
9-21994155-C-G		Familial melanoma • Hereditary cancer-predisposing syndrome	Likely benign (Apr 18, 2022)
9-21994155-C-T		Familial melanoma • Hereditary cancer-predisposing syndrome	Likely benign (Aug 07, 2023)
9-21994156-G-A		Familial melanoma • Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 05, 2023)
9-21994158-C-T		Hereditary cancer-predisposing syndrome	Likely benign (Apr 04, 2022)
9-21994159-T-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 15, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP