SPAG5-AS1

SPAG5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:28598790-28617377

Links

ENSG00000227543 ∙ NCBI:100506436 ∙ ∙ HGNC:41140 ∙ ∙ ∙ 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 SPAG5-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPAG5-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			45	2	1	48
Total	0	0	45	2	1

Variants in SPAG5-AS1

This is a list of pathogenic ClinVar variants found in the SPAG5-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
17-28610491-G-A		not specified	Uncertain significance (Apr 08, 2022)
17-28610544-C-G		not specified	Uncertain significance (Jul 26, 2024)
17-28610548-G-A		not specified	Uncertain significance (Dec 12, 2023)
17-28610578-G-A		not specified	Likely benign (May 25, 2022)
17-28610590-A-C		not specified	Uncertain significance (Oct 16, 2024)
17-28610593-G-A		not specified	Uncertain significance (Sep 12, 2024)
17-28610608-A-C		not specified	Uncertain significance (Feb 15, 2023)
17-28610618-C-G		not specified	Uncertain significance (Dec 19, 2022)
17-28610650-T-C		not specified	Uncertain significance (Aug 10, 2021)
17-28610669-G-A		not specified	Uncertain significance (Jul 08, 2022)
17-28610674-C-T		not specified	Uncertain significance (Mar 01, 2024)
17-28611163-G-T		not specified	Uncertain significance (Mar 20, 2023)
17-28611166-C-T		not specified	Uncertain significance (Nov 06, 2023)
17-28611216-A-C		not specified	Uncertain significance (Jul 12, 2023)
17-28611230-A-C		not specified	Uncertain significance (Jul 17, 2024)
17-28611240-G-A		not specified	Uncertain significance (Feb 23, 2023)
17-28611407-G-T		not specified	Uncertain significance (Jan 31, 2023)
17-28611437-A-C		not specified	Uncertain significance (Dec 15, 2023)
17-28611461-C-G		not specified	Uncertain significance (Apr 17, 2023)
17-28611614-G-C		not specified	Uncertain significance (Sep 13, 2023)
17-28611623-C-T		not specified	Uncertain significance (Mar 20, 2023)
17-28611624-G-A		not specified	Uncertain significance (May 04, 2022)
17-28611783-G-T		not specified	Uncertain significance (Jan 23, 2024)
17-28612054-C-T		not specified	Uncertain significance (Dec 05, 2024)
17-28612310-G-A		not specified	Uncertain significance (Nov 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP