LACTB2-AS1

LACTB2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:70608494-70663279

Links

ENSG00000246366 ∙ NCBI:286190 ∙ ∙ HGNC:27841 ∙ ∙ ∙ 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 LACTB2-AS1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LACTB2-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			7			7
Total	0	0	7	0	0

Variants in LACTB2-AS1

This is a list of pathogenic ClinVar variants found in the LACTB2-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
8-70637868-G-A		not specified	Uncertain significance (Oct 05, 2023)
8-70638611-G-A		not specified	Uncertain significance (Mar 30, 2024)
8-70640957-C-G		not specified	Uncertain significance (May 15, 2024)
8-70640957-C-T		not specified	Likely benign (Jan 03, 2024)
8-70640984-C-T		not specified	Uncertain significance (Dec 05, 2022)
8-70640987-A-G		not specified	Uncertain significance (Sep 28, 2022)
8-70641008-T-A		not specified	Uncertain significance (Dec 30, 2023)
8-70641033-G-T		LACTB2-related condition	Uncertain significance (Mar 18, 2024)
8-70644086-T-G		not specified	Uncertain significance (Apr 25, 2022)
8-70644227-C-T		not specified	Uncertain significance (Sep 22, 2022)
8-70657829-T-C		not specified	Uncertain significance (Jul 14, 2022)
8-70657873-T-C		not specified	Uncertain significance (Jul 20, 2022)
8-70661810-G-C		not specified	Uncertain significance (Jan 23, 2024)
8-70661850-C-A		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LACTB2-AS1	protein_coding	protein_coding	ENST00000499227	1	54703

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	1.19	62	94.7	0.655	0.00000434	1344
Missense in Polyphen		5	14.84	0.33693		230
Synonymous	1.45	28	39.6	0.707	0.00000202	429
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