BICDL2

BICD family like cargo adaptor 2

Basic information

Region (hg38): 16:3027682-3036944

Previous symbols: [ "CCDC64B" ]

Links

ENSG00000162069 ∙ NCBI:146439 ∙ OMIM:617003 ∙ HGNC:33584 ∙ Uniprot:A1A5D9 ∙ 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 BICDL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BICDL2 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in BICDL2

This is a list of pathogenic ClinVar variants found in the BICDL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3028763-G-A		not specified	Uncertain significance (Oct 06, 2021)
16-3029572-C-G		not specified	Uncertain significance (Sep 01, 2021)
16-3029682-G-A		not specified	Uncertain significance (Sep 01, 2021)
16-3029690-C-T		not specified	Uncertain significance (Oct 06, 2021)
16-3031047-C-T			Likely benign (Aug 01, 2023)
16-3031150-G-A		not specified	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BICDL2	protein_coding	protein_coding	ENST00000572449	9	9245

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.80e-12	0.303	124431	0	33	124464	0.000133

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.511	312	288	1.08	0.0000189	3069
Missense in Polyphen		109	97.721	1.1154		1097
Synonymous	0.0341	135	136	0.996	0.00000867	1089
Loss of Function	1.07	21	27.0	0.777	0.00000174	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000161	0.000159
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000495	0.0000464
European (Non-Finnish)	0.000243	0.000231
Middle Eastern	0.00	0.00
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0958

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.241

Mouse Genome Informatics

• Gene name: Bicdl2

Gene ontology

• Biological process: vesicle transport along microtubule;Golgi to secretory granule transport
• Cellular component: cytoplasm
• Molecular function: protein binding;Rab GTPase binding