CNNM3
cyclin and CBS domain divalent metal cation transport mediator 3, the group of Cyclin and CBS domain divalent metal cation transport mediators
Basic information
Region (hg38): 2:96816244-96835382
Previous symbols: [ "ACDP3" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (22 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNNM3 gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 21 | 1 | 22 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 21 | 1 | 0 |
Variants in CNNM3
This is a list of pathogenic ClinVar variants found in the CNNM3 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-96816305-C-G | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | ||
2-96816305-C-T | Inborn genetic diseases | Uncertain significance (Jul 06, 2021) | ||
2-96816372-G-C | Inborn genetic diseases | Uncertain significance (Oct 22, 2021) | ||
2-96816423-T-C | Inborn genetic diseases | Likely benign (Dec 03, 2021) | ||
2-96816492-C-T | Inborn genetic diseases | Uncertain significance (May 17, 2023) | ||
2-96816618-C-T | Inborn genetic diseases | Uncertain significance (Sep 01, 2021) | ||
2-96816653-G-T | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
2-96816660-C-T | Inborn genetic diseases | Uncertain significance (Jul 19, 2022) | ||
2-96816824-C-T | Inborn genetic diseases | Uncertain significance (Apr 04, 2023) | ||
2-96816842-C-T | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | ||
2-96816882-C-G | Inborn genetic diseases | Uncertain significance (Apr 07, 2023) | ||
2-96816909-T-C | Inborn genetic diseases | Uncertain significance (Aug 30, 2021) | ||
2-96816933-A-G | Inborn genetic diseases | Uncertain significance (May 06, 2022) | ||
2-96816939-C-G | Inborn genetic diseases | Uncertain significance (Jun 27, 2023) | ||
2-96816956-G-A | Inborn genetic diseases | Uncertain significance (Jun 23, 2023) | ||
2-96817014-G-T | Inborn genetic diseases | Uncertain significance (Mar 11, 2022) | ||
2-96817074-C-G | Inborn genetic diseases | Uncertain significance (May 17, 2023) | ||
2-96817076-C-G | Inborn genetic diseases | Uncertain significance (Feb 15, 2023) | ||
2-96817103-C-G | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
2-96817158-C-G | Inborn genetic diseases | Uncertain significance (May 09, 2022) | ||
2-96817393-T-G | Inborn genetic diseases | Uncertain significance (Apr 17, 2023) | ||
2-96817437-A-G | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
2-96825150-G-A | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | ||
2-96825154-T-C | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | ||
2-96826911-T-C | Inborn genetic diseases | Uncertain significance (Nov 10, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CNNM3 | protein_coding | protein_coding | ENST00000305510 | 8 | 17667 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.12e-7 | 0.893 | 125713 | 0 | 35 | 125748 | 0.000139 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.756 | 256 | 292 | 0.876 | 0.0000169 | 4388 |
Missense in Polyphen | 96 | 125.76 | 0.76333 | 1870 | ||
Synonymous | -0.470 | 147 | 140 | 1.05 | 0.00000908 | 1619 |
Loss of Function | 1.66 | 14 | 22.5 | 0.622 | 0.00000140 | 258 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000181 | 0.000181 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.000325 | 0.000323 |
European (Non-Finnish) | 0.000132 | 0.000132 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Probable metal transporter. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.108
Haploinsufficiency Scores
- pHI
- 0.258
- hipred
- hipred_score
- ghis
- 0.560
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.949
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cnnm3
- Phenotype
Gene ontology
- Biological process
- ion transport
- Cellular component
- plasma membrane;membrane;integral component of membrane
- Molecular function
- protein binding