CNMD
Basic information
Region (hg38): 13:52703263-52739820
Previous symbols: [ "MYETS1", "LECT1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (5 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNMD 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 | 1 | |||||
missense | 5 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 5 | 0 | 1 |
Variants in CNMD
This is a list of pathogenic ClinVar variants found in the CNMD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
13-52703633-A-G | not specified | Uncertain significance (Jun 03, 2022) | ||
13-52703656-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
13-52703716-T-A | not specified | Uncertain significance (Oct 03, 2022) | ||
13-52703719-T-G | not specified | Uncertain significance (Aug 01, 2022) | ||
13-52703747-C-G | not specified | Uncertain significance (Sep 13, 2023) | ||
13-52703759-T-G | not specified | Uncertain significance (May 04, 2023) | ||
13-52703765-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
13-52708549-T-A | not specified | Uncertain significance (Sep 22, 2023) | ||
13-52712755-C-T | not specified | Uncertain significance (Sep 17, 2021) | ||
13-52712866-C-T | not specified | Uncertain significance (Jan 30, 2024) | ||
13-52724005-A-T | not specified | Uncertain significance (Aug 12, 2021) | ||
13-52724019-T-C | not specified | Uncertain significance (Nov 09, 2021) | ||
13-52724026-C-T | not specified | Likely benign (Oct 25, 2022) | ||
13-52733293-C-T | not specified | Uncertain significance (May 16, 2023) | ||
13-52733297-T-C | not specified | Uncertain significance (Dec 20, 2021) | ||
13-52733328-T-C | not specified | Uncertain significance (Feb 06, 2023) | ||
13-52739065-C-T | not specified | Uncertain significance (Oct 26, 2021) | ||
13-52739109-C-A | Benign (Feb 22, 2018) | |||
13-52739114-C-T | not specified | Uncertain significance (Jun 23, 2023) | ||
13-52739640-C-A | not specified | Uncertain significance (Dec 14, 2023) | ||
13-52739659-G-A | not specified | Uncertain significance (Nov 09, 2021) | ||
13-52739664-A-C | not specified | Uncertain significance (Dec 13, 2023) | ||
13-52739668-G-C | not specified | Uncertain significance (Aug 11, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CNMD | protein_coding | protein_coding | ENST00000377962 | 7 | 36549 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000104 | 0.566 | 125525 | 2 | 221 | 125748 | 0.000887 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.400 | 171 | 186 | 0.918 | 0.00000971 | 2188 |
Missense in Polyphen | 61 | 61.146 | 0.99761 | 677 | ||
Synonymous | -0.125 | 65 | 63.7 | 1.02 | 0.00000332 | 617 |
Loss of Function | 0.902 | 11 | 14.7 | 0.746 | 6.26e-7 | 199 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000799 | 0.000766 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000329 | 0.000277 |
European (Non-Finnish) | 0.00126 | 0.00121 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00170 | 0.00167 |
Other | 0.000824 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization. {ECO:0000269|PubMed:16980969}.;
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- rvis_EVS
- -0.2
- rvis_percentile_EVS
- 38.82
Haploinsufficiency Scores
- pHI
- 0.460
- hipred
- N
- hipred_score
- 0.300
- ghis
- 0.518
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Cnmd
- Phenotype
- immune system phenotype; skeleton phenotype; hematopoietic system phenotype; normal phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- skeletal system development;endothelial cell morphogenesis;negative regulation of endothelial cell proliferation;proteoglycan metabolic process;negative regulation of angiogenesis;cell differentiation;negative regulation of vascular endothelial growth factor receptor signaling pathway;cartilage development
- Cellular component
- extracellular region;endomembrane system;integral component of membrane
- Molecular function