ADAM7-AS1

ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:24169001-24912073

Links

ENSG00000253535 ∙ NCBI:101929294 ∙ ∙ HGNC:56152 ∙ ∙ ∙ 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 ADAM7-AS1 gene.

• Inborn genetic diseases (83 variants)
• not provided (15 variants)
• Hereditary spastic paraplegia (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM7-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			77	11	11	99
Total	0	0	77	11	11

Variants in ADAM7-AS1

This is a list of pathogenic ClinVar variants found in the ADAM7-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
8-24299977-G-A		not specified	Likely benign (Jan 26, 2022)
8-24299991-C-A		not specified	Uncertain significance (Jun 07, 2024)
8-24311367-T-A		not specified	Uncertain significance (Jun 27, 2023)
8-24311434-T-C		not specified	Uncertain significance (Nov 29, 2023)
8-24313393-A-G		not specified	Uncertain significance (Oct 10, 2023)
8-24313419-T-C		not specified	Uncertain significance (Sep 12, 2023)
8-24313443-C-A			Benign (Apr 17, 2018)
8-24313513-G-A		not specified	Uncertain significance (Mar 31, 2022)
8-24313543-T-G		not specified	Uncertain significance (Feb 28, 2024)
8-24313553-C-G		not specified	Uncertain significance (May 09, 2022)
8-24320275-A-G		not specified	Uncertain significance (Nov 18, 2022)
8-24323862-C-T		not specified	Uncertain significance (Jan 26, 2022)
8-24323873-A-G		not specified	Uncertain significance (Sep 22, 2023)
8-24323874-T-C		not specified	Uncertain significance (Jun 24, 2022)
8-24323991-C-T		not specified	Uncertain significance (Apr 13, 2022)
8-24326567-G-T		not specified	Likely benign (Jan 08, 2024)
8-24326621-G-A		not specified	Uncertain significance (May 17, 2023)
8-24326627-G-A			Likely benign (Dec 31, 2019)
8-24330021-A-T		not specified	Uncertain significance (Aug 17, 2022)
8-24330036-G-C		not specified	Uncertain significance (Jun 06, 2023)
8-24331155-A-G		not specified	Uncertain significance (Oct 22, 2021)
8-24331156-T-C			Likely benign (Nov 01, 2022)
8-24331164-C-T		not specified	Uncertain significance (Oct 27, 2022)
8-24331172-A-G		not specified	Uncertain significance (Jan 26, 2022)
8-24331182-G-T		not specified	Uncertain significance (Jan 02, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP