BAALC-AS2

BAALC antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 8:103132954-103141615

Previous symbols: [ "C8orf56", "BAALCOS" ]

Links

ENSG00000236939 ∙ NCBI:157556 ∙ ∙ HGNC:28595 ∙ Uniprot:P0C853 ∙ AlphaFold ∙ 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 BAALC-AS2 gene.

• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAALC-AS2 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			4			4
Total	0	0	4	0	0

Variants in BAALC-AS2

This is a list of pathogenic ClinVar variants found in the BAALC-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-103140923-A-T		not specified	Uncertain significance (Aug 22, 2023)
8-103140937-C-G		not specified	Uncertain significance (Feb 27, 2023)
8-103140951-C-G		not specified	Uncertain significance (Jun 18, 2021)
8-103140958-C-G		not specified	Uncertain significance (Mar 08, 2024)
8-103141001-C-T		not specified	Uncertain significance (Apr 23, 2024)
8-103141022-C-G		not specified	Uncertain significance (Dec 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAALC-AS2	protein_coding	protein_coding	ENST00000436771	1	8513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.434	47	56.1	0.837	0.00000266	678
Missense in Polyphen
Synonymous	0.603	18	21.6	0.835	0.00000126	202
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.515