BEND2
Basic information
Region (hg38): X:18162930-18220886
Previous symbols: [ "CXorf20" ]
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 BEND2 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 | 4 | |||||
missense | 31 | 43 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 32 | 11 | 5 |
Variants in BEND2
This is a list of pathogenic ClinVar variants found in the BEND2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-18165025-G-A | not specified | Uncertain significance (Apr 05, 2023) | ||
X-18165029-C-T | not specified | Uncertain significance (Jan 09, 2024) | ||
X-18165053-C-T | not specified | Uncertain significance (Mar 17, 2023) | ||
X-18165057-C-T | Benign (Mar 29, 2018) | |||
X-18165076-A-G | not specified | Uncertain significance (Aug 09, 2021) | ||
X-18165091-T-C | Likely benign (Apr 01, 2023) | |||
X-18165140-C-T | not specified | Likely benign (Dec 06, 2022) | ||
X-18165187-G-A | not specified | Uncertain significance (May 14, 2024) | ||
X-18171142-T-C | not specified | Likely benign (Jun 05, 2023) | ||
X-18171168-G-A | not specified | Uncertain significance (Sep 15, 2021) | ||
X-18171174-C-T | not specified | Likely benign (Oct 27, 2022) | ||
X-18171190-G-A | not specified | Uncertain significance (Oct 13, 2023) | ||
X-18174114-TC-T | Uncertain significance (Dec 14, 2015) | |||
X-18174116-C-T | not specified | Uncertain significance (Jun 28, 2022) | ||
X-18174117-T-A | not specified | Uncertain significance (Feb 12, 2024) | ||
X-18174125-C-G | not specified | Uncertain significance (May 17, 2023) | ||
X-18174129-T-G | not specified | Uncertain significance (Apr 26, 2024) | ||
X-18174248-C-T | not specified | Uncertain significance (Aug 04, 2023) | ||
X-18174249-G-A | not specified | Uncertain significance (Jul 08, 2022) | ||
X-18175977-T-C | not specified | Uncertain significance (Jan 06, 2023) | ||
X-18175985-C-A | Benign (Nov 18, 2017) | |||
X-18176025-A-T | not specified | Uncertain significance (May 04, 2023) | ||
X-18177592-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
X-18177608-T-A | not specified | Uncertain significance (Jul 05, 2023) | ||
X-18177615-C-A | not specified | Uncertain significance (May 28, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BEND2 | protein_coding | protein_coding | ENST00000380033 | 14 | 57974 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0885 | 0.911 | 124714 | 1 | 6 | 124721 | 0.0000281 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.713 | 257 | 291 | 0.882 | 0.0000218 | 5261 |
Missense in Polyphen | 28 | 49.001 | 0.57142 | 982 | ||
Synonymous | -0.308 | 115 | 111 | 1.04 | 0.00000888 | 1534 |
Loss of Function | 3.13 | 6 | 21.8 | 0.276 | 0.00000153 | 438 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000112 | 0.000112 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000791 | 0.0000545 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.0000791 | 0.0000545 |
South Asian | 0.000179 | 0.000101 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0582
Intolerance Scores
- loftool
- 0.444
- rvis_EVS
- 0.69
- rvis_percentile_EVS
- 85.18
Haploinsufficiency Scores
- pHI
- 0.0457
- hipred
- N
- hipred_score
- 0.273
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.00202
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |