DCDC1
Basic information
Region (hg38): 11:30830368-31369810
Previous symbols: [ "DCDC5" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (21 variants)
- Inborn genetic diseases (11 variants)
- Head and neck cancer (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCDC1 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 | 5 | |||||
missense | 14 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 5 | |||||
Total | 0 | 0 | 14 | 5 | 13 |
Variants in DCDC1
This is a list of pathogenic ClinVar variants found in the DCDC1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-30881290-A-G | Benign (May 08, 2018) | |||
11-30894328-G-T | Uncertain significance (Mar 01, 2024) | |||
11-30899570-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
11-30899605-C-G | Benign (Dec 31, 2019) | |||
11-30899619-C-T | Benign (Oct 01, 2023) | |||
11-30903511-T-C | Benign (May 08, 2018) | |||
11-30903545-C-T | not specified | Uncertain significance (Sep 01, 2021) | ||
11-30903613-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
11-30904978-C-T | Benign (May 08, 2018) | |||
11-30905154-G-A | not specified | Uncertain significance (Jun 11, 2021) | ||
11-30906554-T-C | Likely benign (Jul 01, 2022) | |||
11-30906655-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
11-30916912-T-C | not specified | Uncertain significance (Jul 13, 2021) | ||
11-30920891-G-A | DCDC1-related disorder | Benign (Jun 04, 2019) | ||
11-30925360-A-T | not specified | Uncertain significance (Oct 26, 2021) | ||
11-30925373-C-T | not specified | Uncertain significance (Aug 04, 2021) | ||
11-30931781-G-A | not specified | Likely benign (Jul 09, 2021) | ||
11-30931871-A-G | not specified | Uncertain significance (Oct 18, 2021) | ||
11-30952507-T-C | DCDC1-related disorder | Likely benign (Sep 30, 2019) | ||
11-30952568-C-A | DCDC1-related disorder | Benign (Jun 25, 2019) | ||
11-31064568-G-T | DCDC1-related disorder | Benign (Feb 07, 2020) | ||
11-31065144-G-C | DCDC1-related disorder | Benign (Jan 13, 2020) | ||
11-31077857-G-A | DCDC1-related disorder | Benign (May 14, 2019) | ||
11-31077909-A-C | DCDC1-related disorder | Benign (Nov 25, 2019) | ||
11-31091437-A-G | DCDC1-related disorder | Likely benign (Jul 15, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DCDC1 | protein_coding | protein_coding | ENST00000452803 | 7 | 539442 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.79e-8 | 0.393 | 125651 | 0 | 15 | 125666 | 0.0000597 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0429 | 178 | 176 | 1.01 | 0.00000841 | 2297 |
Missense in Polyphen | 40 | 42.434 | 0.94264 | 562 | ||
Synonymous | -0.602 | 72 | 65.8 | 1.09 | 0.00000332 | 672 |
Loss of Function | 0.758 | 13 | 16.3 | 0.798 | 8.70e-7 | 221 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000420 | 0.000350 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000473 | 0.0000462 |
European (Non-Finnish) | 0.0000560 | 0.0000528 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0343
Intolerance Scores
- loftool
- 0.568
- rvis_EVS
- -0.62
- rvis_percentile_EVS
- 17.16
Haploinsufficiency Scores
- pHI
- 0.0233
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.393
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.136
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dcdc5
- Phenotype
Gene ontology
- Biological process
- intracellular signal transduction
- Cellular component
- Molecular function