PCDHGA5

protocadherin gamma subfamily A, 5, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141364162-141512975

Links

ENSG00000253485NCBI:56110OMIM:606292HGNC:8703Uniprot:Q9Y5G8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • complex neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCDHGA5 gene.

  • Neurodevelopmental disorder with poor growth and skeletal anomalies (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHGA5 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
4
clinvar
1
clinvar
5
missense
92
clinvar
5
clinvar
97
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
4
clinvar
962
clinvar
76
clinvar
14
clinvar
1057
Total 1 4 1054 85 15

Variants in PCDHGA5

This is a list of pathogenic ClinVar variants found in the PCDHGA5 region.

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

Position Type Phenotype Significance ClinVar
5-141364356-G-T not specified Uncertain significance (Jun 19, 2024)3304965
5-141364360-C-G not specified Uncertain significance (Dec 27, 2023)3209954
5-141364376-C-T not specified Uncertain significance (Nov 22, 2023)3209956
5-141364380-T-C not specified Uncertain significance (Oct 13, 2023)3209957
5-141364425-G-A not specified Uncertain significance (Oct 12, 2024)3415441
5-141364445-C-A not specified Uncertain significance (Nov 09, 2024)3415443
5-141364472-A-G not specified Uncertain significance (Mar 05, 2024)3209939
5-141364473-T-C not specified Uncertain significance (Sep 14, 2021)2249014
5-141364517-G-A not specified Uncertain significance (Sep 12, 2023)2588353
5-141364524-G-T not specified Uncertain significance (Mar 24, 2023)2529396
5-141364529-G-A not specified Uncertain significance (Jan 26, 2022)2273200
5-141364590-C-G not specified Uncertain significance (Oct 17, 2023)3209953
5-141364595-A-G not specified Uncertain significance (Mar 18, 2024)3304958
5-141364604-C-G not specified Uncertain significance (Jun 13, 2023)2559931
5-141364605-G-A not specified Uncertain significance (Oct 03, 2022)2399007
5-141364613-C-G not specified Uncertain significance (Aug 02, 2023)2615200
5-141364631-C-G not specified Uncertain significance (Dec 13, 2022)2334313
5-141364637-G-A not specified Uncertain significance (Nov 20, 2024)3415432
5-141364641-T-C not specified Uncertain significance (Feb 28, 2024)3209955
5-141364741-G-C not specified Uncertain significance (Aug 19, 2024)3415433
5-141364755-T-C not specified Uncertain significance (May 09, 2023)2570160
5-141364832-C-G not specified Uncertain significance (Jul 26, 2024)3415436
5-141364854-A-G not specified Uncertain significance (May 21, 2024)2342554
5-141364897-A-C not specified Uncertain significance (Dec 21, 2023)3209958
5-141364934-C-T not specified Uncertain significance (Apr 12, 2023)2536333

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP