FAM216B

family with sequence similarity 216 member B

Basic information

Region (hg38): 13:42781550-42791549

Previous symbols: [ "C13orf30" ]

Links

ENSG00000179813 ∙ NCBI:144809 ∙ ∙ HGNC:26883 ∙ Uniprot:Q8N7L0 ∙ 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 FAM216B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM216B 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			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in FAM216B

This is a list of pathogenic ClinVar variants found in the FAM216B region.

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

Position	Type	Phenotype	Significance	ClinVar
13-42784079-C-A		not specified	Likely benign (Aug 22, 2023)
13-42784087-G-A		not specified	Uncertain significance (Feb 18, 2025)
13-42786784-C-A		not specified	Uncertain significance (Apr 11, 2023)
13-42786784-C-T		not specified	Uncertain significance (Apr 08, 2022)
13-42786827-A-G		not specified	Uncertain significance (Dec 04, 2024)
13-42786832-G-A		not specified	Uncertain significance (Jul 13, 2021)
13-42786850-T-C		not specified	Uncertain significance (May 17, 2023)
13-42788635-A-G		not specified	Uncertain significance (Nov 28, 2023)
13-42788689-C-T		not specified	Uncertain significance (Nov 07, 2022)
13-42788765-A-T		not specified	Uncertain significance (Jun 10, 2024)
13-42788771-G-A		not specified	Uncertain significance (Feb 23, 2025)
13-42788784-G-T		not specified	Uncertain significance (Nov 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM216B	protein_coding	protein_coding	ENST00000537894	3	9998

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000810	0.562	125674	0	9	125683	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.128	73	76.1	0.959	0.00000407	880
Missense in Polyphen		14	13.844	1.0113		176
Synonymous	0.679	21	25.3	0.829	0.00000108	281
Loss of Function	0.414	5	6.11	0.819	3.28e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000530	0.0000528
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.257
• hipred: N
• hipred_score: 0.123
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fam216b