C11orf65
Basic information
Region (hg38): 11:108308518-108467531
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Ataxia-telangiectasia syndrome (2224 variants)
- Hereditary cancer-predisposing syndrome (1654 variants)
- not provided (490 variants)
- Familial cancer of breast (307 variants)
- not specified (263 variants)
- Breast and/or ovarian cancer (47 variants)
- Malignant tumor of breast (37 variants)
- Hereditary breast ovarian cancer syndrome (37 variants)
- Familial cancer of breast;Ataxia-telangiectasia syndrome (24 variants)
- ATM-related condition (19 variants)
- Ataxia-telangiectasia syndrome;Familial cancer of breast (18 variants)
- Gastric cancer (15 variants)
- Malignant tumor of urinary bladder (7 variants)
- Ovarian cancer (6 variants)
- Tip-toe gait (4 variants)
- Familial ovarian cancer (4 variants)
- Carcinoma of colon (4 variants)
- Inborn genetic diseases (3 variants)
- See cases (3 variants)
- Breast carcinoma (3 variants)
- Abnormal central motor function (3 variants)
- Ataxia-telangiectasia syndrome;Malignant tumor of breast (3 variants)
- Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to (3 variants)
- Ataxia - telangiectasia variant (2 variants)
- Breast cancer, susceptibility to (2 variants)
- Carcinoma of pancreas (1 variants)
- Multifocal breast carcinoma (1 variants)
- Ataxia-telangiectasia without immunodeficiency (1 variants)
- Glioblastoma (1 variants)
- Familial prostate carcinoma (1 variants)
- Colorectal cancer (1 variants)
- Clear cell carcinoma of kidney (1 variants)
- Astrocytoma IDH-mutant (1 variants)
- Endometrial carcinoma (1 variants)
- Malignant glioma (1 variants)
- ATM-related disorders (1 variants)
- Familial pancreatic carcinoma (1 variants)
- Prostate neoplasm (1 variants)
- Uterine corpus cancer (1 variants)
- Malignant tumor of thyroid gland (1 variants)
- T-cell prolymphocytic leukemia (1 variants)
- Colorectal polyposis (1 variants)
- Breast cancer, early-onset (1 variants)
- Breast cancer, susceptibility to;Ataxia-telangiectasia syndrome (1 variants)
- Malignant tumor of breast;Ataxia-telangiectasia syndrome (1 variants)
- Papillary thyroid carcinoma (1 variants)
- Breast neoplasm (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf65 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 | 0 | |||||
missense | 2 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region ? | 4 | 4 | ||||
non coding ? | 292 | 223 | 1398 | 742 | 37 | 2692 |
Total | 292 | 223 | 1400 | 744 | 37 |
Highest pathogenic variant AF is 0.0000329
Variants in C11orf65
This is a list of pathogenic ClinVar variants found in the C11orf65 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-108309009-T-C | Likely benign (Jul 26, 2019) | |||
11-108309080-A-G | Ataxia-telangiectasia syndrome | Uncertain significance (Nov 10, 2022) | ||
11-108309104-G-A | Familial cancer of breast • Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome • ATM-related disorder | Conflicting classifications of pathogenicity (May 16, 2024) | ||
11-108309104-G-C | Ataxia-telangiectasia syndrome | Likely benign (Jan 24, 2024) | ||
11-108309105-G-C | ATM-related disorder | Likely benign (Dec 13, 2019) | ||
11-108309108-AAAGACATGCATTC-A | Ataxia-telangiectasia syndrome | Likely benign (Jan 18, 2023) | ||
11-108309110-A-G | Ataxia - telangiectasia variant • Ataxia-telangiectasia syndrome • Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome;Familial cancer of breast • Breast and/or ovarian cancer • Familial cancer of breast | Pathogenic/Likely pathogenic (Feb 01, 2024) | ||
11-108309114-A-G | ATM-related disorder | Likely benign (Feb 14, 2024) | ||
11-108309858-A-G | Hereditary cancer-predisposing syndrome | Likely benign (Dec 01, 2015) | ||
11-108310137-CATT-C | Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome | Likely benign (Dec 15, 2023) | ||
11-108310139-TTA-T | not specified • Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome | Likely benign (Aug 07, 2023) | ||
11-108310140-T-G | Ataxia-telangiectasia syndrome | Likely benign (Dec 05, 2023) | ||
11-108310140-TATATCTCATTTTTCTTTAGACCTTCTTC-T | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jul 21, 2023) | ||
11-108310141-A-G | Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome | Likely benign (Aug 31, 2023) | ||
11-108310143-ATC-A | not specified • Ataxia-telangiectasia syndrome | Likely benign (May 25, 2021) | ||
11-108310145-C-G | Ataxia-telangiectasia syndrome | Likely benign (Sep 27, 2023) | ||
11-108310147-C-G | Hereditary cancer-predisposing syndrome | Uncertain significance (Sep 28, 2020) | ||
11-108310147-C-T | not specified • Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome | Likely benign (Jan 05, 2024) | ||
11-108310148-A-G | not specified • Ataxia-telangiectasia syndrome | Likely benign (Aug 12, 2021) | ||
11-108310149-T-C | not specified • Ataxia-telangiectasia syndrome | Likely benign (Dec 12, 2023) | ||
11-108310152-T-G | Ataxia-telangiectasia syndrome | Likely benign (Mar 21, 2023) | ||
11-108310153-T-C | Ataxia-telangiectasia syndrome | Likely benign (Sep 12, 2023) | ||
11-108310153-T-G | Ataxia-telangiectasia syndrome | Likely benign (Sep 08, 2023) | ||
11-108310155-T-C | Hereditary cancer-predisposing syndrome • Ataxia-telangiectasia syndrome | Conflicting classifications of pathogenicity (Jan 11, 2022) | ||
11-108310155-T-G | Hereditary cancer-predisposing syndrome | Uncertain significance (Aug 11, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
C11orf65 | protein_coding | protein_coding | ENST00000393084 | 8 | 159013 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.02e-14 | 0.00431 | 125497 | 0 | 248 | 125745 | 0.000987 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.370 | 148 | 161 | 0.918 | 0.00000748 | 2085 |
Missense in Polyphen | 40 | 45.264 | 0.88371 | 577 | ||
Synonymous | 0.904 | 43 | 51.2 | 0.839 | 0.00000235 | 535 |
Loss of Function | -0.804 | 19 | 15.6 | 1.22 | 7.38e-7 | 194 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00106 | 0.00105 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000115 | 0.000109 |
Finnish | 0.000279 | 0.000277 |
European (Non-Finnish) | 0.00173 | 0.00172 |
Middle Eastern | 0.000115 | 0.000109 |
South Asian | 0.000596 | 0.000588 |
Other | 0.000496 | 0.000489 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0950
Intolerance Scores
- loftool
- 0.632
- rvis_EVS
- 0.66
- rvis_percentile_EVS
- 84.44
Haploinsufficiency Scores
- pHI
- 0.103
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- 4930550C14Rik
- Phenotype
Zebrafish Information Network
- Gene name
- gb:co360592
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- curved
Gene ontology
- Biological process
- Cellular component
- Molecular function
- protein binding