MBLAC1

metallo-beta-lactamase domain containing 1, the group of MBL domain containing glyoxalase 2 subfamily

Basic information

Region (hg38): 7:100126785-100128495

Links

ENSG00000214309NCBI:255374HGNC:22180Uniprot:A4D2B0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MBLAC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBLAC1 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
0
missense
16
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 16 0 0

Variants in MBLAC1

This is a list of pathogenic ClinVar variants found in the MBLAC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-100127367-G-A Congenital long QT syndrome Likely pathogenic (-)3358894
7-100127471-C-G not specified Uncertain significance (Mar 15, 2024)3293537
7-100127475-G-A not specified Uncertain significance (Mar 10, 2025)3870982
7-100127480-G-C not specified Uncertain significance (May 24, 2023)2551202
7-100127493-G-T not specified Uncertain significance (Jan 21, 2025)3870983
7-100127547-C-A not specified Uncertain significance (Jan 19, 2024)2263442
7-100127604-C-T not specified Uncertain significance (Oct 04, 2022)2316679
7-100127607-C-A not specified Uncertain significance (May 28, 2024)3293540
7-100127664-G-C not specified Uncertain significance (May 12, 2024)3293536
7-100127718-C-T not specified Uncertain significance (Jun 06, 2023)2557270
7-100127742-A-C not specified Uncertain significance (Aug 19, 2024)3543854
7-100127760-A-T not specified Uncertain significance (Nov 10, 2024)3543855
7-100127796-C-T not specified Uncertain significance (Nov 27, 2023)3124073
7-100127801-G-A not specified Uncertain significance (Jul 27, 2021)2343875
7-100127816-G-A not specified Uncertain significance (Jan 21, 2025)3870984
7-100127861-C-G not specified Uncertain significance (Feb 06, 2023)2480992
7-100127955-T-G not specified Uncertain significance (Oct 07, 2024)3543853
7-100128089-G-A not specified Uncertain significance (May 23, 2024)3293538
7-100128111-G-C not specified Uncertain significance (Apr 07, 2022)2375000
7-100128117-C-G not specified Uncertain significance (Jun 29, 2022)2298882
7-100128150-G-T not specified Uncertain significance (Feb 20, 2025)3870986
7-100128167-G-A not specified Uncertain significance (Jan 26, 2025)3870985

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MBLAC1protein_codingprotein_codingENST00000398075 11802
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.2130.6581106750151106900.0000678
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.20931320.7060.000005951595
Missense in Polyphen2242.7060.51515549
Synonymous1.025464.40.8380.00000300627
Loss of Function1.0512.940.3401.30e-733

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0007650.000753
Finnish0.000.00
European (Non-Finnish)0.00002050.0000200
Middle Eastern0.0007650.000753
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.314
ghis
0.408

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.266

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mblac1
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
hydrolase activity;metal ion binding