MUC16
Basic information
Region (hg38): 19:8848844-9010390
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 MUC16 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 | 44 | 23 | 67 | |||
missense | 24 | 30 | 54 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 5 | 5 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 68 | 53 |
Variants in MUC16
This is a list of pathogenic ClinVar variants found in the MUC16 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-8851267-C-G | MUC16-related disorder | Benign (Feb 18, 2019) | ||
19-8851305-C-G | MUC16-related disorder | Benign (Oct 17, 2019) | ||
19-8851713-G-A | MUC16-related disorder | Benign (Feb 26, 2019) | ||
19-8856089-C-T | MUC16-related disorder | Likely benign (Jun 01, 2022) | ||
19-8856110-C-T | MUC16-related disorder | Likely benign (Feb 26, 2019) | ||
19-8858668-A-G | MUC16-related disorder | Likely benign (Apr 01, 2023) | ||
19-8858760-A-T | MUC16-related disorder | Likely benign (Jun 12, 2019) | ||
19-8861005-A-C | Likely benign (May 01, 2022) | |||
19-8861016-C-T | MUC16-related disorder | Likely benign (Mar 04, 2019) | ||
19-8862883-T-C | MUC16-related disorder | Benign (Apr 25, 2019) | ||
19-8862912-A-G | MUC16-related disorder | Benign (Apr 08, 2019) | ||
19-8863312-C-T | MUC16-related disorder | Likely benign (Nov 01, 2022) | ||
19-8865686-C-T | MUC16-related disorder | Benign (Oct 28, 2019) | ||
19-8865687-G-C | Likely benign (Dec 01, 2022) | |||
19-8865756-C-T | MUC16-related disorder | Likely benign (Aug 15, 2019) | ||
19-8868536-C-T | MUC16-related disorder | Likely benign (Mar 31, 2022) | ||
19-8868537-G-A | MUC16-related disorder | Likely benign (Jun 21, 2019) | ||
19-8868547-G-C | MUC16-related disorder | Benign (Feb 19, 2019) | ||
19-8871472-G-A | MUC16-related disorder | Likely benign (Mar 25, 2019) | ||
19-8871536-A-G | MUC16-related disorder | Benign (Jun 28, 2019) | ||
19-8871590-G-A | MUC16-related disorder | Benign (Jun 28, 2019) | ||
19-8871595-G-A | MUC16-related disorder | Benign (Jan 03, 2020) | ||
19-8871627-C-T | MUC16-related disorder | Benign (Mar 14, 2019) | ||
19-8871641-G-A | Likely benign (Mar 01, 2022) | |||
19-8876400-G-A | Congenital long QT syndrome | Uncertain significance (-) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MUC16 | protein_coding | protein_coding | ENST00000397910 | 84 | 132499 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.27e-112 | 0.994 | 124430 | 0 | 274 | 124704 | 0.00110 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -8.06 | 9193 | 7.26e+3 | 1.27 | 0.000357 | 91882 |
Missense in Polyphen | 651 | 575.15 | 1.1319 | 7547 | ||
Synonymous | -8.41 | 3384 | 2.82e+3 | 1.20 | 0.000145 | 32884 |
Loss of Function | 5.45 | 232 | 341 | 0.681 | 0.0000157 | 5070 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00610 | 0.00594 |
Ashkenazi Jewish | 0.00110 | 0.00109 |
East Asian | 0.000618 | 0.000612 |
Finnish | 0.000325 | 0.000325 |
European (Non-Finnish) | 0.000850 | 0.000823 |
Middle Eastern | 0.000618 | 0.000612 |
South Asian | 0.00112 | 0.00111 |
Other | 0.00117 | 0.00115 |
dbNSFP
Source:
- Function
- FUNCTION: Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. {ECO:0000250}.;
- Pathway
- Post-translational protein modification;Dectin-2 family;Metabolism of proteins;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Termination of O-glycan biosynthesis;O-linked glycosylation of mucins;O-linked glycosylation
(Consensus)
Intolerance Scores
- loftool
- 0.998
- rvis_EVS
- 29.75
- rvis_percentile_EVS
- 100
Haploinsufficiency Scores
- pHI
- 0.0588
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0690
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Muc16
- Phenotype
- reproductive system phenotype;
Gene ontology
- Biological process
- stimulatory C-type lectin receptor signaling pathway;cell adhesion;O-glycan processing
- Cellular component
- Golgi lumen;plasma membrane;integral component of membrane;extrinsic component of membrane;vesicle;extracellular exosome
- Molecular function
- protein binding