ARHGAP11A-SCG5

ARHGAP11A-SCG5 readthrough

Basic information

Region (hg38): 15:32613859-32697095

Links

ENSG00000288864 ∙ NCBI:114118903 ∙ ∙ HGNC:56310 ∙ ∙ ∙ 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 ARHGAP11A-SCG5 gene.

• not provided (44 variants)
• Inborn genetic diseases (32 variants)
• - (2 variants)
• Hereditary mixed polyposis syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP11A-SCG5 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				6	3	9
missense			10	1	2	13
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding		1	19	12	18	50
Total	0	1	30	19	23

Highest pathogenic variant AF is 0.000460

Variants in ARHGAP11A-SCG5

This is a list of pathogenic ClinVar variants found in the ARHGAP11A-SCG5 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-32616270-G-T		not specified	Uncertain significance (Jul 12, 2023)
15-32616326-G-A		not specified	Uncertain significance (Dec 28, 2023)
15-32623540-A-T		not specified	Uncertain significance (Nov 10, 2023)
15-32624183-A-G		not specified	Uncertain significance (Mar 07, 2024)
15-32624186-A-G		not specified	Likely benign (Jun 14, 2023)
15-32624202-A-G			Benign (Jun 18, 2018)
15-32624213-C-T		not specified	Likely benign (Nov 22, 2023)
15-32624234-T-A		not specified	Uncertain significance (Dec 09, 2023)
15-32625169-C-T		not specified	Uncertain significance (Oct 03, 2022)
15-32625519-C-A		not specified	Uncertain significance (Dec 07, 2021)
15-32625523-C-T		not specified	Uncertain significance (Oct 29, 2021)
15-32625541-G-T		not specified	Uncertain significance (Dec 14, 2023)
15-32625561-C-T			Likely benign (Oct 31, 2018)
15-32625568-G-A		not specified	Uncertain significance (Jun 21, 2022)
15-32628797-G-T		-	no classification for the single variant (-)
15-32629621-C-T		not specified	Uncertain significance (Jun 12, 2023)
15-32629634-C-A		not specified	Uncertain significance (Jan 23, 2024)
15-32629642-A-G			Benign (Dec 31, 2019)
15-32629647-G-T		not specified	Uncertain significance (Jan 11, 2023)
15-32629654-G-C			Benign (Oct 17, 2018)
15-32629755-G-A			Benign (Jul 06, 2018)
15-32633000-A-G		not specified	Uncertain significance (Sep 01, 2021)
15-32633035-A-G		not specified	Uncertain significance (Jan 23, 2024)
15-32633041-G-A		not specified	Uncertain significance (Dec 06, 2022)
15-32633073-G-A			Benign (Jun 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP