GeneBe

PCDHGB2

protocadherin gamma subfamily B, 2, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141359994-141512975

Links

ENSG00000253910 ∙ NCBI:56103 ∙ OMIM:606300 ∙ HGNC:8709 ∙ Uniprot:Q9Y5G2 ∙ 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 PCDHGB2 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 PCDHGB2 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
41
clinvar
3
clinvar
2
clinvar
 46
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
733
clinvar
65
clinvar
12
clinvar
 814
Total 1 3 774 71 15

Variants in PCDHGB2

This is a list of pathogenic ClinVar variants found in the PCDHGB2 region.

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

Position Type Phenotype Significance ClinVar
5-141360218-C-G not specified Uncertain significance (May 31, 2023)2553788
5-141360241-T-C not specified Uncertain significance (Apr 21, 2022)2259921
5-141360331-C-G not specified Uncertain significance (Jul 28, 2021)3210041
5-141360359-T-G not specified Uncertain significance (Oct 25, 2022)2319423
5-141360387-A-T not specified Uncertain significance (May 23, 2024)3305021
5-141360407-A-G not specified Uncertain significance (Sep 30, 2021)2366177
5-141360419-T-C not specified Uncertain significance (Sep 29, 2022)2314839
5-141360454-G-A Likely benign (Mar 01, 2023)2655845
5-141360455-A-T not specified Uncertain significance (Apr 26, 2023)2540984
5-141360572-C-G not specified Uncertain significance (Sep 01, 2021)2227704
5-141360614-C-T not specified Uncertain significance (Mar 11, 2024)3210042
5-141360660-C-A not specified Uncertain significance (Dec 06, 2021)2372948
5-141360850-C-G not specified Uncertain significance (May 31, 2022)2229477
5-141360884-C-T not specified Uncertain significance (Dec 02, 2021)2263101
5-141360895-G-C not specified Uncertain significance (Oct 24, 2023)3210043
5-141361046-A-T not specified Uncertain significance (Aug 02, 2023)2615103
5-141361092-C-G not specified Uncertain significance (Nov 17, 2022)2307452
5-141361093-G-C not specified Uncertain significance (Jul 30, 2023)2614830
5-141361198-C-A not specified Uncertain significance (Jun 22, 2023)2605475
5-141361205-C-T not specified Uncertain significance (Apr 09, 2024)3305018
5-141361226-C-G not specified Uncertain significance (Jan 30, 2024)3210039
5-141361298-G-A not specified Uncertain significance (Jul 20, 2021)2347801
5-141361332-G-T not specified Uncertain significance (Jun 21, 2022)2216718
5-141361343-A-G not specified Uncertain significance (Nov 03, 2022)2222173
5-141361414-G-A not specified Likely benign (Apr 25, 2023)2518724

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP