PCDHGA5

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

Basic information

Region (hg38): 5:141364162-141512975

Links

ENSG00000253485 ∙ NCBI:56110 ∙ OMIM:606292 ∙ HGNC:8703 ∙ Uniprot:Q9Y5G8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

• not_specified (1657 variants)
• Inborn_genetic_diseases (96 variants)
• not_provided (53 variants)
• Neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies (9 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (2 variants)
• Neurodevelopmental_disorder (1 variants)
• PCDHGC4-related_disorder (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. These statistics are base on transcript: NM_000018918.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			133	9		142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	133	13	1

Highest pathogenic variant AF is 0.00000433829

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP