PCDHAC1

protocadherin alpha subfamily C, 1, the group of Clustered protocadherins

Basic information

Region (hg38): 5:140926299-141012347

Links

ENSG00000248383 ∙ NCBI:56135 ∙ OMIM:606320 ∙ HGNC:8676 ∙ Uniprot:Q9H158 ∙ 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 PCDHAC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHAC1 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	1	5
missense			44	5		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			26	4		30
Total	0	0	70	13	1

Variants in PCDHAC1

This is a list of pathogenic ClinVar variants found in the PCDHAC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-140926998-G-T		not specified	Uncertain significance (Aug 02, 2022)
5-140927035-C-A		not specified	Uncertain significance (Apr 12, 2022)
5-140927058-C-G		not specified	Uncertain significance (May 20, 2024)
5-140927079-G-C		not specified	Uncertain significance (Dec 19, 2022)
5-140927177-G-T		not specified	Uncertain significance (Feb 06, 2023)
5-140927203-C-T		not specified	Uncertain significance (Dec 28, 2023)
5-140927272-G-A		not specified	Uncertain significance (Apr 15, 2024)
5-140927334-G-A		not specified	Uncertain significance (Feb 05, 2024)
5-140927344-A-G		not specified	Uncertain significance (Feb 17, 2024)
5-140927384-C-G		not specified	Uncertain significance (Sep 27, 2022)
5-140927409-A-G		not specified	Uncertain significance (Mar 01, 2023)
5-140927427-G-A		not specified	Uncertain significance (Sep 17, 2021)
5-140927432-C-G		not specified	Uncertain significance (Dec 17, 2021)
5-140927469-C-G		not specified	Uncertain significance (Nov 07, 2022)
5-140927496-G-A		not specified	Uncertain significance (Aug 04, 2023)
5-140927578-A-G		not specified	Uncertain significance (Sep 29, 2023)
5-140927659-A-C		not specified	Uncertain significance (May 28, 2024)
5-140927670-C-A		not specified	Uncertain significance (Apr 07, 2022)
5-140927698-A-C		not specified	Uncertain significance (Feb 05, 2024)
5-140927719-C-A		not specified	Uncertain significance (Apr 22, 2022)
5-140927731-T-G		not specified	Uncertain significance (Sep 27, 2021)
5-140927748-G-A		not specified	Uncertain significance (Jun 16, 2023)
5-140927772-C-A		not specified	Uncertain significance (Apr 08, 2024)
5-140927773-A-G		not specified	Likely benign (Jun 30, 2022)
5-140927833-A-G		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PCDHAC1	protein_coding	protein_coding	ENST00000253807	4	85628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.57e-11	0.673	125449	0	299	125748	0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00543	552	552	1.00	0.0000296	6227
Missense in Polyphen		162	151.4	1.07		1856
Synonymous	1.40	205	232	0.883	0.0000131	2079
Loss of Function	1.47	20	28.5	0.702	0.00000164	321

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00506	0.00499
Ashkenazi Jewish	0.000498	0.000496
East Asian	0.000381	0.000381
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.00127	0.00127
Middle Eastern	0.000381	0.000381
South Asian	0.000490	0.000490
Other	0.00115	0.00114

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: 0.976
• rvis_EVS: 1.23
• rvis_percentile_EVS: 93.27

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.259

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Pcdhac1
• 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