BFSP2-AS1

BFSP2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:133426402-133491163

Links

ENSG00000249993 ∙ NCBI:85003 ∙ ∙ HGNC:28425 ∙ ∙ ∙ 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 BFSP2-AS1 gene.

• not provided (20 variants)
• Cataract 12 multiple types (19 variants)
• Inborn genetic diseases (4 variants)
• BFSP2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BFSP2-AS1 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		12	13	13	40
Total	2	0	12	13	13

Highest pathogenic variant AF is 0.0000197

Variants in BFSP2-AS1

This is a list of pathogenic ClinVar variants found in the BFSP2-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-133447017-A-G			Likely benign (Feb 06, 2020)
3-133447309-C-T			Likely benign (Aug 01, 2018)
3-133447344-C-T		Cataract 12 multiple types	Conflicting classifications of pathogenicity (Mar 09, 2023)
3-133447349-C-T		Cataract 12 multiple types	Likely benign (Nov 25, 2021)
3-133447377-G-A		not specified	Uncertain significance (Jul 14, 2021)
3-133447394-A-G		Cataract 12 multiple types	Uncertain significance (Jan 12, 2018)
3-133447559-A-G		Cataract 12 multiple types	Benign (Jul 14, 2021)
3-133448273-G-A			Benign (Sep 05, 2018)
3-133448494-A-G		Cataract 12 multiple types	Uncertain significance (Jan 12, 2018)
3-133448514-A-AGGC		Cataract 12 multiple types	Uncertain significance (Mar 14, 2024)
3-133448519-G-A		Cataract 12 multiple types	Benign (Jan 27, 2024)
3-133448519-G-G		Cataract 12 multiple types	Benign (Jan 27, 2024)
3-133448543-GTA-G		Cataract 12 multiple types	Uncertain significance (Nov 14, 2018)
3-133448583-C-G		Cataract 12 multiple types • BFSP2-related disorder	Benign/Likely benign (Jul 06, 2022)
3-133448599-A-G			Uncertain significance (Mar 20, 2023)
3-133448607-AAAG-A		Cataract 12 multiple types • BFSP2-related disorder	Pathogenic (May 18, 2022)
3-133448617-T-C		Cataract 12 multiple types	Uncertain significance (Jan 12, 2018)
3-133448623-C-G		not specified	Uncertain significance (Dec 01, 2022)
3-133448636-C-T		Cataract 12 multiple types • BFSP2-related disorder	Benign (Oct 05, 2020)
3-133448638-A-G		Cataract 12 multiple types	Uncertain significance (Jan 13, 2018)
3-133448643-G-A		not specified	Uncertain significance (May 17, 2023)
3-133448962-G-GT			Benign (Sep 13, 2019)
3-133449980-G-A			Benign (Aug 24, 2019)
3-133449982-A-AAGG			Benign (Jan 10, 2020)
3-133449982-A-AAAGG			Likely benign (Dec 24, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP