EMG1
Basic information
Region (hg38): 12:6970912-6979936
Links
Phenotypes
GenCC
Source:
- Bowen-Conradi syndrome (Strong), mode of inheritance: AR
- Bowen-Conradi syndrome (Moderate), mode of inheritance: AR
- Bowen-Conradi syndrome (Supportive), mode of inheritance: AR
- Bowen-Conradi syndrome (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Bowen-Conradi syndrome | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Musculoskeletal; Neurologic | 974244; 484596; 12838567; 15578624; 19463982 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (13 variants)
- not provided (10 variants)
- not specified (1 variants)
- Bowen-Conradi syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMG1 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 | 7 | |||||
missense | 5 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 1 | ||||
non coding ? | 10 | 10 | ||||
Total | 0 | 0 | 13 | 4 | 6 |
Variants in EMG1
This is a list of pathogenic ClinVar variants found in the EMG1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-6970938-T-C | Benign (Dec 31, 2019) | |||
12-6970961-G-T | Benign/Likely benign (Dec 31, 2019) | |||
12-6970965-C-G | EMG1-related disorder | Likely benign (Sep 17, 2019) | ||
12-6971024-C-G | not specified | Benign (Feb 13, 2015) | ||
12-6971047-A-AG | Bowen-Conradi syndrome | Benign (Jul 30, 2021) | ||
12-6971049-G-G | Likely benign (-) | |||
12-6974359-A-C | Benign (Mar 03, 2015) | |||
12-6974419-G-A | Likely benign (Dec 31, 2019) | |||
12-6974427-A-G | Bowen-Conradi syndrome | Pathogenic (Jun 01, 2009) | ||
12-6974428-T-C | Likely benign (Dec 31, 2019) | |||
12-6975083-C-T | Likely benign (Sep 21, 2017) | |||
12-6975093-A-G | Inborn genetic diseases | Uncertain significance (Nov 22, 2022) | ||
12-6975270-T-C | Benign (Dec 31, 2019) | |||
12-6975297-C-T | EMG1-related disorder | Likely benign (Jul 03, 2020) | ||
12-6975298-C-T | Inborn genetic diseases | Uncertain significance (Aug 14, 2023) | ||
12-6975333-C-T | Benign (Dec 31, 2019) | |||
12-6975742-C-G | Inborn genetic diseases | Uncertain significance (Mar 16, 2022) | ||
12-6975776-C-G | Likely benign (Dec 31, 2019) | |||
12-6975817-A-C | EMG1-related disorder | Likely benign (May 05, 2020) | ||
12-6977155-C-G | not specified | Uncertain significance (Sep 16, 2021) | ||
12-6977208-T-C | not specified | Uncertain significance (Feb 08, 2023) | ||
12-6977229-A-T | not specified | Uncertain significance (Nov 08, 2022) | ||
12-6977231-A-G | not specified | Uncertain significance (Sep 29, 2023) | ||
12-6977497-G-A | not specified | Uncertain significance (Oct 27, 2022) | ||
12-6977725-T-C | not specified | Uncertain significance (Jun 08, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EMG1 | protein_coding | protein_coding | ENST00000261406 | 7 | 33113 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000147 | 0.658 | 124615 | 0 | 22 | 124637 | 0.0000883 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.304 | 147 | 137 | 1.07 | 0.00000699 | 1565 |
Missense in Polyphen | ||||||
Synonymous | -1.56 | 64 | 49.9 | 1.28 | 0.00000232 | 488 |
Loss of Function | 0.938 | 9 | 12.6 | 0.715 | 7.84e-7 | 125 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000261 | 0.000258 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000167 | 0.000167 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.0000718 | 0.0000708 |
Middle Eastern | 0.000167 | 0.000167 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source: