BORCS8

protein-coding

BLOC-1 related complex subunit 8, the group of BLOC-1 related complex subunits

Gene summary

Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MEF2BNB

MANE transcript

NM_001145784.2

Inheritance

ClinVar variants

P:5U:28B:1

Top phenotype

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr19:19,176,903-19,192,591

External References & Databases

Ensembl (ENSG00000254901)

Transcript & Mutation Effects

hg38 • Region Span ~15.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0975837

Submitter: PanelApp Australia

inherited neurodegenerative disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0024237

Submitter: Ambry Genetics

neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0975837

Submitter: G2P

Clinical Genomic Database (CGD)

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesAR

Manifestation: Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic

Intervention: General

Rationale: 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

Refs: 38128568

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BORCS8 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 27

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesTotal: 6

not providedTotal: 1

Semilobar holoprosencephalyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145784.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense	2 clinvar		28 clinvar			30
nonsense		1 clinvar				1
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	3	2	28	1	0	34

Highest pathogenic variant AF is 7.1517763e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145784.2	RefSeq	NP_001139256.1	5	MANE Select
ENST00000462790.8	Ensembl	ENSP00000425864.1	5	MANE Select
NM_001145783.2	RefSeq	NP_001139255.1	4	Standard
ENST00000477565.3	Ensembl	ENSP00000424833.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

heart development

Molecular Function

protein binding

Cellular Component

lysosomal membrane
BORC complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000462790
Coding exons: 5
Length: 15689
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.914	51	73.0	0.699	0.00000472	768
Missense (PolyPhen)		10	20.521	0.4873		216
Synonymous	0.530	27	30.7	0.878	0.00000220	219
Loss of Function	0.503	6	7.48	0.802	3.19e-7	91

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. {ECO:0000305|PubMed:25898167}.;

Intolerance Scores

RVIS EVS: 0.15
RVIS percentile EVS: 63.81

Essentials

Essential (gene trap): N