PCDHAC2

protocadherin alpha subfamily C, 2, the group of Clustered protocadherins

Basic information

Region (hg38): 5:140966470-141012347

Links

ENSG00000243232NCBI:56134OMIM:606321HGNC:8677Uniprot:Q9Y5I4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCDHAC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHAC2 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
7
clinvar
1
clinvar
8
missense
26
clinvar
2
clinvar
28
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 26 9 1

Variants in PCDHAC2

This is a list of pathogenic ClinVar variants found in the PCDHAC2 region.

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

Position Type Phenotype Significance ClinVar
5-140966862-G-C not specified Uncertain significance (May 24, 2024)3304774
5-140966895-G-C not specified Uncertain significance (Oct 05, 2023)3209530
5-140966962-G-C not specified Uncertain significance (Dec 13, 2023)3209532
5-140967080-T-C not specified Uncertain significance (Dec 28, 2023)3209535
5-140967172-G-A not specified Uncertain significance (May 27, 2022)2292341
5-140967246-G-T Likely benign (Feb 01, 2023)2655803
5-140967448-A-G not specified Uncertain significance (Jul 09, 2021)2236043
5-140967476-G-T not specified Uncertain significance (Jan 30, 2024)3209536
5-140967542-A-G not specified Uncertain significance (Mar 07, 2023)2495327
5-140967577-C-T not specified Uncertain significance (Aug 16, 2021)2245872
5-140967672-C-G not specified Uncertain significance (Apr 09, 2024)3304771
5-140967833-T-G not specified Uncertain significance (Dec 01, 2022)2331542
5-140967927-C-G Likely benign (Apr 01, 2023)2655804
5-140967959-G-A not specified Uncertain significance (Jul 20, 2021)2238595
5-140967961-A-C not specified Uncertain significance (Apr 07, 2022)2281920
5-140968058-G-A not specified Uncertain significance (Aug 13, 2021)2390226
5-140968115-C-T not specified Uncertain significance (Feb 03, 2022)2381300
5-140968153-A-G not specified Uncertain significance (Oct 06, 2022)2226362
5-140968280-C-T not specified Uncertain significance (Jan 24, 2024)3209531
5-140968348-A-G not specified Uncertain significance (Jun 29, 2023)2608214
5-140968355-G-C not specified Uncertain significance (Dec 13, 2022)2334108
5-140968670-T-C not specified Uncertain significance (Jan 10, 2022)2271141
5-140968677-G-A Likely benign (Nov 01, 2023)2673031
5-140968690-A-G not specified Uncertain significance (Apr 24, 2024)3304772
5-140968789-G-A not specified Uncertain significance (Jun 07, 2024)3304767

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PCDHAC2protein_codingprotein_codingENST00000289269 446117
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9310.06891257290191257480.0000756
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.724625790.7990.00003056489
Missense in Polyphen133213.320.623492499
Synonymous-0.3982532451.030.00001322186
Loss of Function4.28530.60.1640.00000184333

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002330.000233
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00006390.0000615
Middle Eastern0.000.00
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.;

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.175
rvis_EVS
-0.75
rvis_percentile_EVS
13.71

Haploinsufficiency Scores

pHI
hipred
Y
hipred_score
0.693
ghis
0.551

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.165

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Pcdhac2
Phenotype
normal phenotype;

Gene ontology

Biological process
cell adhesion;homophilic cell adhesion via plasma membrane adhesion molecules;nervous system development
Cellular component
integral component of plasma membrane
Molecular function
calcium ion binding