PCDHAC2
Basic information
Region (hg38): 5:140966470-141012347
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 8 | |||||
missense | 26 | 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) | ||
5-140966895-G-C | not specified | Uncertain significance (Oct 05, 2023) | ||
5-140966962-G-C | not specified | Uncertain significance (Dec 13, 2023) | ||
5-140967080-T-C | not specified | Uncertain significance (Dec 28, 2023) | ||
5-140967172-G-A | not specified | Uncertain significance (May 27, 2022) | ||
5-140967246-G-T | Likely benign (Feb 01, 2023) | |||
5-140967448-A-G | not specified | Uncertain significance (Jul 09, 2021) | ||
5-140967476-G-T | not specified | Uncertain significance (Jan 30, 2024) | ||
5-140967542-A-G | not specified | Uncertain significance (Mar 07, 2023) | ||
5-140967577-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
5-140967672-C-G | not specified | Uncertain significance (Apr 09, 2024) | ||
5-140967833-T-G | not specified | Uncertain significance (Dec 01, 2022) | ||
5-140967927-C-G | Likely benign (Apr 01, 2023) | |||
5-140967959-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
5-140967961-A-C | not specified | Uncertain significance (Apr 07, 2022) | ||
5-140968058-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
5-140968115-C-T | not specified | Uncertain significance (Feb 03, 2022) | ||
5-140968153-A-G | not specified | Uncertain significance (Oct 06, 2022) | ||
5-140968280-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
5-140968348-A-G | not specified | Uncertain significance (Jun 29, 2023) | ||
5-140968355-G-C | not specified | Uncertain significance (Dec 13, 2022) | ||
5-140968670-T-C | not specified | Uncertain significance (Jan 10, 2022) | ||
5-140968677-G-A | Likely benign (Nov 01, 2023) | |||
5-140968690-A-G | not specified | Uncertain significance (Apr 24, 2024) | ||
5-140968789-G-A | not specified | Uncertain significance (Jun 07, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PCDHAC2 | protein_coding | protein_coding | ENST00000289269 | 4 | 46117 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.931 | 0.0689 | 125729 | 0 | 19 | 125748 | 0.0000756 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.72 | 462 | 579 | 0.799 | 0.0000305 | 6489 |
Missense in Polyphen | 133 | 213.32 | 0.62349 | 2499 | ||
Synonymous | -0.398 | 253 | 245 | 1.03 | 0.0000132 | 2186 |
Loss of Function | 4.28 | 5 | 30.6 | 0.164 | 0.00000184 | 333 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000233 | 0.000233 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000639 | 0.0000615 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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