CEACAM16-AS1

CEACAM16, CEACAM19 and PVR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:44608568-44725315

Links

ENSG00000266903 ∙ NCBI:107985305 ∙ ∙ HGNC:55317 ∙ ∙ ∙ 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 CEACAM16-AS1 gene.

• not provided (148 variants)
• Inborn genetic diseases (46 variants)
• not specified (41 variants)
• Autosomal dominant nonsyndromic hearing loss 4B (9 variants)
• Hearing loss, autosomal recessive 113 (3 variants)
• Hearing impairment (3 variants)
• Autosomal dominant nonsyndromic hearing loss 4B;Hearing loss, autosomal recessive 113 (3 variants)
• Nonsyndromic genetic hearing loss (2 variants)
• Abnormality of the ear (1 variants)
• Hearing loss, autosomal recessive 113;Autosomal dominant nonsyndromic hearing loss 4B (1 variants)
• Rare genetic deafness (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM16-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	7	4	101	71	28	211
Total	7	4	101	71	28

Highest pathogenic variant AF is 0.0000263

Variants in CEACAM16-AS1

This is a list of pathogenic ClinVar variants found in the CEACAM16-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
19-44613682-C-G		not specified	Uncertain significance (Jan 09, 2024)
19-44613695-G-C		not specified	Uncertain significance (Jan 03, 2024)
19-44613740-C-A		not specified	Uncertain significance (Nov 21, 2023)
19-44613754-T-C		not specified	Uncertain significance (Nov 08, 2021)
19-44613760-G-A		not specified	Uncertain significance (Feb 01, 2023)
19-44623738-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-44623748-G-A		not specified	Likely benign (Nov 22, 2023)
19-44623808-A-G		not specified	Uncertain significance (Dec 16, 2021)
19-44623832-C-A		not specified	Uncertain significance (Apr 18, 2023)
19-44623877-G-A		not specified	Uncertain significance (Apr 01, 2024)
19-44623879-C-T		not specified	Uncertain significance (May 11, 2022)
19-44623880-G-A		not specified	Uncertain significance (Apr 12, 2022)
19-44627433-G-T		not specified	Uncertain significance (Aug 22, 2023)
19-44627449-C-T		not specified	Uncertain significance (Nov 29, 2023)
19-44627497-G-A		not specified	Uncertain significance (Aug 02, 2022)
19-44627507-C-T		not specified	Likely benign (Nov 02, 2023)
19-44627545-A-C		not specified	Uncertain significance (Jun 21, 2023)
19-44627549-G-A		not specified	Uncertain significance (May 23, 2023)
19-44635402-A-G		not specified	Uncertain significance (Jan 31, 2024)
19-44635421-G-A		not specified	Uncertain significance (Feb 27, 2023)
19-44644096-C-T		PVR-related disorder	Benign (Feb 14, 2020)
19-44644152-T-C		not specified	Uncertain significance (Mar 04, 2024)
19-44647231-G-A		not specified	Uncertain significance (Jan 23, 2024)
19-44647322-A-G		not specified	Uncertain significance (Nov 07, 2023)
19-44647342-G-A		PVR-related disorder	Benign (Aug 01, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP