GeneBe

PCDHGB5

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

Basic information

Region (hg38): 5:141397947-141512975

Links

ENSG00000276547 ∙ NCBI:56101 ∙ OMIM:606302 ∙ HGNC:8712 ∙ Uniprot:Q9Y5G0 ∙ AlphaFold ∙ 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 PCDHGB5 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 PCDHGB5 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
46
clinvar
2
clinvar
1
clinvar
 49
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
364
clinvar
40
clinvar
10
clinvar
 418
Total 1 3 410 46 12

Variants in PCDHGB5

This is a list of pathogenic ClinVar variants found in the PCDHGB5 region.

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

Position Type Phenotype Significance ClinVar
5-141398135-G-A not specified Uncertain significance (Jan 18, 2023)2476568
5-141398156-G-A not specified Uncertain significance (Aug 08, 2023)2617566
5-141398206-C-T not specified Uncertain significance (Dec 04, 2023)3210081
5-141398404-G-A not specified Uncertain significance (Nov 18, 2022)2327467
5-141398519-C-G not specified Uncertain significance (Aug 02, 2021)2389604
5-141398552-T-C not specified Uncertain significance (Oct 17, 2023)3210080
5-141398563-G-A not specified Likely benign (Jun 07, 2024)3305035
5-141398602-G-C not specified Uncertain significance (Apr 15, 2024)3305036
5-141398900-G-A not specified Uncertain significance (Apr 12, 2024)3305037
5-141398940-G-C not specified Uncertain significance (Oct 10, 2023)3210082
5-141398955-A-T not specified Uncertain significance (Jun 10, 2024)3305039
5-141398962-T-A not specified Uncertain significance (Jan 31, 2024)3210083
5-141398972-A-G not specified Uncertain significance (Mar 13, 2023)2466532
5-141398989-T-A not specified Uncertain significance (Feb 11, 2022)2341695
5-141399149-C-T not specified Uncertain significance (Apr 06, 2023)2533824
5-141399169-C-G not specified Uncertain significance (Aug 16, 2022)2362947
5-141399197-T-C not specified Uncertain significance (Jul 22, 2022)2303041
5-141399231-T-G not specified Uncertain significance (Apr 07, 2023)2535357
5-141399280-G-A not specified Uncertain significance (May 31, 2023)2553231
5-141399359-C-T not specified Uncertain significance (Jun 11, 2021)2363245
5-141399361-C-T not specified Uncertain significance (Nov 21, 2023)3210076
5-141399437-A-T not specified Uncertain significance (Nov 09, 2021)2259617
5-141399447-C-A not specified Uncertain significance (Apr 24, 2024)3305038
5-141399527-T-C not specified Uncertain significance (Jan 10, 2023)2455260
5-141399568-G-A not specified Uncertain significance (Nov 08, 2022)2324355

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP