BLVRA

biliverdin reductase A

Basic information

Region (hg38): 7:43758679-43807342

Previous symbols: [ "BLVR" ]

Links

ENSG00000106605 ∙ NCBI:644 ∙ OMIM:109750 ∙ HGNC:1062 ∙ Uniprot:P53004 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hyperbiliverdinemia	AD/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	Gastrointestinal	19580635; 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 (1 variants)
• Hyperbiliverdinemia (1 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				5	5	10
missense			18	2	5	25
nonsense	1	1				2
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	2		3
non coding				4	1	5
Total	1	1	18	11	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)
7-43771189-C-T			Likely benign (Feb 05, 2023)
7-43787904-C-A		not specified	Conflicting classifications of pathogenicity (Jan 23, 2023)
7-43787906-C-T			Likely benign (Nov 08, 2022)
7-43787922-G-A		not specified	Uncertain significance (Nov 08, 2021)
7-43787943-C-T		Hyperbiliverdinemia	Pathogenic (Aug 01, 2009)
7-43787954-C-T		BLVRA-related disorder	Likely benign (Apr 09, 2019)
7-43787956-T-C			Uncertain significance (Sep 27, 2022)
7-43787959-G-A			Uncertain significance (Jan 20, 2024)
7-43787996-G-A			Benign/Likely benign (Jan 18, 2024)
7-43788000-C-G			Likely benign (Feb 27, 2023)
7-43788022-C-A		Hyperbiliverdinemia	Pathogenic (Aug 15, 2023)
7-43788036-A-G			Likely benign (Jan 08, 2024)
7-43791236-T-C			Likely benign (Apr 12, 2022)
7-43791266-T-C		not specified	Uncertain significance (Apr 04, 2023)
7-43791268-G-A		not specified	Conflicting classifications of pathogenicity (Jan 23, 2023)
7-43791271-G-T		Hyperbiliverdinemia	Likely pathogenic (Dec 26, 2019)
7-43791281-A-G			Benign (Jan 18, 2024)
7-43791289-T-C		BLVRA-related disorder	Benign (Jan 26, 2024)
7-43791329-A-G		not specified	Conflicting classifications of pathogenicity (Dec 11, 2023)
7-43791330-T-C			Likely benign (Apr 13, 2023)
7-43791360-C-G			Likely benign (Nov 18, 2023)
7-43791360-C-T			Benign (Aug 19, 2022)
7-43792704-G-A			Likely benign (Jun 10, 2022)
7-43792717-A-C		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLVRA	protein_coding	protein_coding	ENST00000402924	7	48661

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000348	0.955	125697	0	50	125747	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.346	147	159	0.923	0.00000929	1925
Missense in Polyphen		52	62.449	0.83268		726
Synonymous	1.34	53	66.9	0.792	0.00000418	569
Loss of Function	1.79	8	15.7	0.511	9.42e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.000970	0.000971
European (Non-Finnish)	0.000202	0.000202
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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