Menu
GeneBe

BLVRA

biliverdin reductase A

Basic information

Region (hg38): 7:43758679-43807342

Previous symbols: [ "BLVR" ]

Links

ENSG00000106605NCBI:644OMIM:109750HGNC:1062Uniprot:P53004AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • hyperbiliverdinemia (Supportive), mode of inheritance: AD
  • hyperbiliverdinemia (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
HyperbiliverdinemiaAD/ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingGastrointestinal19580635; 19699374; 21278388
Appropriate hepatic-related care may be beneficial, but the advantage of genetic diagnosis is unclear; Individuals with heterozygous variants have been reported as manifesting with clinical signs in the context of (apparently unrelated) liver dysfunction

ClinVar

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

  • not provided (26 variants)
  • Inborn genetic diseases (12 variants)
  • Hyperbiliverdinemia (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLVRA 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
2
clinvar
5
clinvar
7
missense
11
clinvar
2
clinvar
5
clinvar
18
nonsense
1
clinvar
1
clinvar
2
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
2
3
non coding
2
clinvar
1
clinvar
3
Total 1 1 11 6 11

Variants in BLVRA

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

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

Position Type Phenotype Significance ClinVar
7-43771165-G-A Benign (Jan 29, 2024)2118005
7-43771189-C-T Likely benign (Feb 05, 2023)2965983
7-43787904-C-A Inborn genetic diseases Conflicting classifications of pathogenicity (Jan 23, 2023)2142366
7-43787906-C-T Likely benign (Nov 08, 2022)2175440
7-43787922-G-A Inborn genetic diseases Uncertain significance (Nov 08, 2021)2209147
7-43787943-C-T Hyperbiliverdinemia Pathogenic (Aug 01, 2009)29612
7-43787954-C-T BLVRA-related condition Likely benign (Apr 09, 2019)3048619
7-43787956-T-C Uncertain significance (Sep 27, 2022)2032797
7-43787959-G-A Uncertain significance (Jan 20, 2024)2965867
7-43787996-G-A Benign/Likely benign (Jan 18, 2024)2055170
7-43788000-C-G Likely benign (Feb 27, 2023)2705820
7-43788022-C-A Hyperbiliverdinemia Pathogenic (Aug 15, 2023)29613
7-43788036-A-G Likely benign (Jan 08, 2024)2788243
7-43791236-T-C Likely benign (Apr 12, 2022)1988983
7-43791266-T-C Inborn genetic diseases Uncertain significance (Apr 04, 2023)2532720
7-43791268-G-A Inborn genetic diseases Conflicting classifications of pathogenicity (Jan 23, 2023)2142367
7-43791271-G-T Hyperbiliverdinemia Likely pathogenic (Dec 26, 2019)1029936
7-43791281-A-G Benign (Jan 18, 2024)775081
7-43791289-T-C BLVRA-related condition Benign (Jan 26, 2024)2118007
7-43791329-A-G Inborn genetic diseases Conflicting classifications of pathogenicity (Dec 11, 2023)2060837
7-43791330-T-C Likely benign (Apr 13, 2023)2855873
7-43791360-C-G Likely benign (Nov 18, 2023)2707348
7-43791360-C-T Benign (Aug 19, 2022)724517
7-43792704-G-A Likely benign (Jun 10, 2022)1987531
7-43792721-C-T Likely benign (Oct 13, 2023)2904170

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BLVRAprotein_codingprotein_codingENST00000402924 748661
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0003480.9551256970501257470.000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3461471590.9230.000009291925
Missense in Polyphen5262.4490.83268726
Synonymous1.345366.90.7920.00000418569
Loss of Function1.79815.70.5119.42e-7174

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008670.0000867
Ashkenazi Jewish0.00009950.0000992
East Asian0.00005440.0000544
Finnish0.0009700.000971
European (Non-Finnish)0.0002020.000202
Middle Eastern0.00005440.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.;
Pathway
Porphyrin and chlorophyll metabolism - Homo sapiens (human);Hereditary Coproporphyria (HCP);Porphyria Variegata (PV);Congenital Erythropoietic Porphyria (CEP) or Gunther Disease;Acute Intermittent Porphyria;Porphyrin Metabolism;il-10 anti-inflammatory signaling pathway;heme degradation;Heme degradation;Metabolism of porphyrins;Metabolism (Consensus)

Recessive Scores

pRec
0.127

Intolerance Scores

loftool
0.632
rvis_EVS
0.06
rvis_percentile_EVS
58.74

Haploinsufficiency Scores

pHI
0.181
hipred
Y
hipred_score
0.736
ghis
0.497

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.701

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Blvra
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; liver/biliary system phenotype;

Gene ontology

Biological process
heme catabolic process;oxidation-reduction process
Cellular component
cytosol;extracellular exosome
Molecular function
biliverdin reductase activity;protein binding;zinc ion binding