GNAS-AS1

GNAS antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:58818893-58855296

Previous symbols: [ "GNASAS", "GNAS-AS" ]

Links

ENSG00000235590 ∙ NCBI:149775 ∙ OMIM:610540 ∙ HGNC:24872 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• pseudohypoparathyroidism type 1B (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GNAS-AS1 gene.

• not provided (33 variants)
• GNAS-related condition (14 variants)
• not specified (7 variants)
• Inborn genetic diseases (2 variants)
• Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B (1 variants)
• 8 conditions (1 variants)
• Pseudohypoparathyroidism type I A (1 variants)
• Pseudohypoparathyroidism type 1B;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1C (1 variants)
• Pseudohypoparathyroidism type 1B (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNAS-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	1	1	35	6	9	52
Total	1	1	35	6	9

Variants in GNAS-AS1

This is a list of pathogenic ClinVar variants found in the GNAS-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
20-58819179-G-A			Benign (Aug 01, 2024)
20-58839812-C-G			Benign (Nov 16, 2018)
20-58840055-A-G			Benign (Oct 16, 2018)
20-58840106-G-A		GNAS-AS1-related condition	Uncertain significance (Sep 15, 2024)
20-58840109-G-A			Likely pathogenic (Sep 16, 2018)
20-58840109-GGA-AAT		GNAS-related disorder	Uncertain significance (Feb 06, 2024)
20-58840110-G-A			Uncertain significance (Mar 01, 2023)
20-58840112-T-C		GNAS-related disorder	Likely benign (Nov 12, 2021)
20-58840113-C-G		Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type I A • GNAS-related disorder	Uncertain significance (Apr 08, 2022)
20-58840113-C-T		Pseudohypoparathyroidism type I A	Uncertain significance (Oct 18, 2021)
20-58840116-A-G		not specified • GNAS-related disorder	Uncertain significance (Oct 01, 2015)
20-58840129-A-C		GNAS-related disorder	Uncertain significance (Dec 12, 2023)
20-58840133-G-A		GNAS-related disorder	Likely benign (Mar 09, 2021)
20-58840140-C-T		Pseudopseudohypoparathyroidism	Likely pathogenic (-)
20-58840147-G-A		GNAS-related disorder	Uncertain significance (Jun 19, 2024)
20-58840147-G-T		GNAS-related disorder	Uncertain significance (Jun 13, 2024)
20-58840150-A-G		GNAS-related disorder	Uncertain significance (Mar 29, 2023)
20-58840162-A-AC		GNAS-related disorder	Uncertain significance (Oct 24, 2020)
20-58840178-A-G		GNAS-related disorder	Uncertain significance (Oct 10, 2023)
20-58840179-G-A		GNAS-related disorder	Uncertain significance (Oct 23, 2023)
20-58840220-C-T		GNAS-related disorder	Likely benign (Apr 17, 2024)
20-58840232-C-T		GNAS-related disorder	Likely benign (Jan 10, 2020)
20-58840233-C-T		GNAS-related disorder	Uncertain significance (Nov 13, 2023)
20-58840238-C-A		GNAS-related disorder	Likely benign (Nov 01, 2023)
20-58840294-GCTTC-G			Uncertain significance (Dec 29, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Nespas
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)