FBN3

fibrillin 3, the group of Fibrillins

Basic information

Region (hg38): 19:8065401-8149592

Links

ENSG00000142449 ∙ NCBI:84467 ∙ OMIM:608529 ∙ HGNC:18794 ∙ Uniprot:Q75N90 ∙ 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 FBN3 gene.

• not provided (720 variants)
• Inborn genetic diseases (150 variants)
• Flexion contracture (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBN3 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			2	123	60	185
missense			354	57	48	459
nonsense			11			11
start loss						0
frameshift			6			6
inframe indel			1			1
splice donor/acceptor (+/-2bp)			3	1		4
splice region			13	24	20	57
non coding			3	55	37	95
Total	0	0	380	236	145

Variants in FBN3

This is a list of pathogenic ClinVar variants found in the FBN3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-8065983-G-T		FBN3-related disorder	Benign/Likely benign (Jan 12, 2024)
19-8065992-C-T		Flexion contracture	Uncertain significance (Jul 20, 2023)
19-8065993-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-8065999-G-A		not specified	Uncertain significance (Dec 15, 2022)
19-8066017-C-T		not specified	Uncertain significance (Jul 05, 2023)
19-8066028-C-T		See cases • not specified	Likely benign (Jun 28, 2022)
19-8066029-G-A		not specified	Uncertain significance (Jul 14, 2023)
19-8066045-C-A			Likely benign (Aug 06, 2023)
19-8066049-C-T			Uncertain significance (Aug 30, 2023)
19-8066078-G-A			Likely benign (Jan 04, 2022)
19-8066082-C-T			Uncertain significance (May 11, 2022)
19-8066096-GC-TT			Uncertain significance (Jul 19, 2022)
19-8066097-C-G		not specified	Uncertain significance (Dec 20, 2023)
19-8066097-C-T		not specified	Uncertain significance (May 31, 2023)
19-8066098-G-A			Uncertain significance (Apr 01, 2022)
19-8066119-C-T		FBN3-related disorder	Benign (Dec 11, 2023)
19-8066120-G-A			Likely benign (Nov 18, 2023)
19-8066122-G-A			Uncertain significance (Aug 10, 2022)
19-8066125-C-T			Uncertain significance (Dec 07, 2022)
19-8066126-G-A			Likely benign (Nov 27, 2023)
19-8066127-A-G		not specified	Uncertain significance (Nov 04, 2023)
19-8066132-G-A			Likely benign (Sep 21, 2023)
19-8066136-C-T		not specified	Uncertain significance (Oct 17, 2023)
19-8066137-G-A			Uncertain significance (Jun 09, 2022)
19-8066143-G-A			Likely benign (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBN3	protein_coding	protein_coding	ENST00000600128	63	84445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.44e-42	1.00	125369	0	379	125748	0.00151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.958	1653	1.77e+3	0.936	0.000117	18370
Missense in Polyphen		595	658.55	0.9035		7325
Synonymous	-0.0775	725	722	1.00	0.0000510	5387
Loss of Function	4.19	90	144	0.624	0.00000760	1585

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00541	0.00528
Ashkenazi Jewish	0.000310	0.000298
East Asian	0.00197	0.00190
Finnish	0.000617	0.000601
European (Non-Finnish)	0.00145	0.00142
Middle Eastern	0.00197	0.00190
South Asian	0.00165	0.00160
Other	0.00181	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Fibrillin-3: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support. {ECO:0000269|PubMed:14962672}.
• Pathway: Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;Extracellular matrix organization;Elastic fibre formation (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.0141
• rvis_EVS: 7.07
• rvis_percentile_EVS: 99.89

Haploinsufficiency Scores

• pHI: 0.0992
• hipred: N
• hipred_score: 0.427
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Cellular component: extracellular matrix;collagen-containing extracellular matrix
• Molecular function: extracellular matrix structural constituent;calcium ion binding