GeneBe

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.

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
3
clinvar
1
clinvar
 4
missense
25
clinvar
2
clinvar
2
clinvar
 29
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
50
clinvar
4
clinvar
7
clinvar
 62
Total 0 1 75 9 10

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)1226940
X-102714835-G-A Benign (May 20, 2021)1280293
X-102714903-G-C not specified Uncertain significance (Feb 06, 2024)3101929
X-102714932-G-C GPRASP2-related disorder • not specified Uncertain significance (Sep 08, 2024)2213119
X-102714939-G-A not specified Uncertain significance (Oct 16, 2023)3101930
X-102715009-G-C GPRASP2-related disorder • not specified Uncertain significance (May 05, 2022)2378413
X-102715045-C-T not specified Uncertain significance (May 13, 2024)3282480
X-102715048-C-T not specified Uncertain significance (Sep 04, 2024)3522202
X-102715076-G-A not specified Uncertain significance (Oct 24, 2024)3522208
X-102715080-G-A not specified Uncertain significance (May 30, 2024)3282477
X-102715113-G-T not specified Uncertain significance (Jun 29, 2023)2607531
X-102715124-ACCCAAAACGGAGGCTCAAGGAATCACAGGGGCCAGG-A GPRASP2-related disorder Uncertain significance (Apr 29, 2024)3350499
X-102715133-G-A GPRASP2-related disorder Likely benign (Mar 27, 2019)3047223
X-102715156-C-T not specified Uncertain significance (Sep 13, 2023)2588661
X-102715165-A-G not specified Uncertain significance (May 18, 2022)2290231
X-102715176-A-T not specified Uncertain significance (Sep 27, 2022)2204615
X-102715194-C-T not specified Uncertain significance (Nov 08, 2024)3522210
X-102715195-G-A GPRASP2-related disorder Likely benign (Oct 25, 2021)3053315
X-102715243-AGGCCCAGGCATG-A Benign (Apr 04, 2018)787162
X-102715310-G-T not specified Uncertain significance (Jan 10, 2023)2472403
X-102715373-C-T GPRASP2-related disorder Likely benign (Oct 02, 2019)3040660
X-102715383-G-A not specified Uncertain significance (Jul 15, 2024)3522199
X-102715388-A-C Benign (May 05, 2021)1183084
X-102715447-A-G not specified Uncertain significance (Oct 25, 2024)3522209
X-102715454-G-C GPRASP2-related disorder Likely benign (Sep 22, 2023)3049800

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}.;