ARMCX5-GPRASP2

ARMCX5-GPRASP2 readthrough

Basic information

Region (hg38): X:102712495-102753530

Links

ENSG00000286237 ∙ NCBI:100528062 ∙ ∙ HGNC:42000 ∙ ∙ ∙ 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 ARMCX5-GPRASP2 gene.

• Inborn genetic diseases (44 variants)
• not provided (12 variants)
• Intellectual disability (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMCX5-GPRASP2 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	11	2	58
Total	0	0	45	11	2

Variants in ARMCX5-GPRASP2

This is a list of pathogenic ClinVar variants found in the ARMCX5-GPRASP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-102714234-A-G			Benign (May 12, 2021)
X-102714835-G-A			Benign (May 20, 2021)
X-102714903-G-C		not specified	Uncertain significance (Feb 06, 2024)
X-102714932-G-C		GPRASP2-related disorder • not specified	Uncertain significance (Feb 17, 2022)
X-102714939-G-A		not specified	Uncertain significance (Oct 16, 2023)
X-102715009-G-C		GPRASP2-related disorder • not specified	Uncertain significance (May 05, 2022)
X-102715045-C-T		not specified	Uncertain significance (May 13, 2024)
X-102715080-G-A		not specified	Uncertain significance (May 30, 2024)
X-102715113-G-T		not specified	Uncertain significance (Jun 29, 2023)
X-102715124-ACCCAAAACGGAGGCTCAAGGAATCACAGGGGCCAGG-A		GPRASP2-related disorder	Uncertain significance (Apr 29, 2024)
X-102715133-G-A		GPRASP2-related disorder	Likely benign (Mar 27, 2019)
X-102715156-C-T		not specified	Uncertain significance (Sep 13, 2023)
X-102715165-A-G		not specified	Uncertain significance (May 18, 2022)
X-102715176-A-T		not specified	Uncertain significance (Sep 27, 2022)
X-102715195-G-A		GPRASP2-related disorder	Likely benign (Oct 25, 2021)
X-102715243-AGGCCCAGGCATG-A			Benign (Apr 04, 2018)
X-102715310-G-T		not specified	Uncertain significance (Jan 10, 2023)
X-102715373-C-T		GPRASP2-related disorder	Likely benign (Oct 02, 2019)
X-102715388-A-C			Benign (May 05, 2021)
X-102715454-G-C		GPRASP2-related disorder	Likely benign (Sep 22, 2023)
X-102715567-C-T		GPRASP2-related disorder	Benign (Aug 10, 2022)
X-102715657-A-G		not specified	Uncertain significance (Dec 20, 2023)
X-102715671-T-C		not specified	Uncertain significance (May 13, 2024)
X-102715730-G-A		GPRASP2-related disorder	Likely benign (Mar 08, 2019)
X-102715734-A-G		GPRASP2-related disorder	Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in regulation of a variety of G-protein coupled receptors. {ECO:0000269|PubMed:15086532}.