BOLA3-DT

BOLA3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:74147044-74156983

Previous symbols: [ "BOLA3-AS1" ]

Links

ENSG00000225439 ∙ NCBI:100507171 ∙ ∙ HGNC:42922 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BOLA3-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOLA3-DT 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2	1	3
Total	0	0	0	2	1

Variants in BOLA3-DT

This is a list of pathogenic ClinVar variants found in the BOLA3-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
2-74147514-C-T			Benign (Jun 14, 2018)
2-74147527-T-C			Likely benign (Oct 27, 2018)
2-74147757-G-A			Benign (Jun 23, 2018)
2-74147775-C-T			Benign (Jul 27, 2018)
2-74147802-C-T			Likely benign (Mar 14, 2022)
2-74147805-C-T			Likely benign (Jan 06, 2025)
2-74147806-C-T			Likely benign (Aug 05, 2022)
2-74147809-G-C		not specified	Benign/Likely benign (Nov 04, 2024)
2-74147818-C-T			Uncertain significance (Sep 26, 2022)
2-74147821-C-G			Uncertain significance (Mar 27, 2022)
2-74147821-C-T			Uncertain significance (Aug 06, 2024)
2-74147820-C-CCCCGCGGAT			Uncertain significance (Jun 28, 2022)
2-74147826-G-A			Uncertain significance (Oct 25, 2022)
2-74147830-C-A		not specified • Multiple mitochondrial dysfunctions syndrome 2 • BOLA3-related disorder	Benign/Likely benign (Jan 20, 2025)
2-74147835-G-A		Inborn genetic diseases	Uncertain significance (Oct 24, 2023)
2-74147843-G-A		Inborn genetic diseases	Uncertain significance (Mar 24, 2023)
2-74147849-G-A		Inborn genetic diseases	Uncertain significance (May 03, 2023)
2-74147853-C-T		Inborn genetic diseases	Uncertain significance (Jun 29, 2021)
2-74147854-G-A		Multiple mitochondrial dysfunctions syndrome 2	Uncertain significance (Jan 12, 2018)
2-74147855-G-A			Uncertain significance (May 20, 2019)
2-74147856-C-T		Multiple mitochondrial dysfunctions syndrome 2	Conflicting classifications of pathogenicity (May 15, 2024)
2-74147861-C-A			Uncertain significance (Sep 27, 2020)
2-74147866-T-C		not specified	Likely benign (Dec 21, 2021)
2-74147882-C-T		Multiple mitochondrial dysfunctions syndrome 2	Uncertain significance (Jan 12, 2018)
2-74147909-G-A		Multiple mitochondrial dysfunctions syndrome 2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP