FAM217B

family with sequence similarity 217 member B

Basic information

Region (hg38): 20:59933764-59948680

Previous symbols: [ "C20orf177" ]

Links

ENSG00000196227 ∙ NCBI:63939 ∙ ∙ HGNC:16170 ∙ Uniprot:Q9NTX9 ∙ 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 FAM217B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM217B 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			40	3		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	3	0

Variants in FAM217B

This is a list of pathogenic ClinVar variants found in the FAM217B region.

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

Position	Type	Phenotype	Significance	ClinVar
20-59939058-C-T		not specified	Uncertain significance (Sep 22, 2022)
20-59939067-C-T		not specified	Uncertain significance (Apr 18, 2023)
20-59939072-G-A		not specified	Uncertain significance (Sep 16, 2021)
20-59939085-C-T		not specified	Uncertain significance (Jul 26, 2024)
20-59939088-G-A		not specified	Uncertain significance (Nov 19, 2022)
20-59939121-C-G		not specified	Uncertain significance (Aug 26, 2024)
20-59939171-T-C		not specified	Uncertain significance (Sep 08, 2024)
20-59939204-G-C		not specified	Uncertain significance (Apr 12, 2022)
20-59939253-C-T		not specified	Uncertain significance (Feb 22, 2025)
20-59939261-C-T		not specified	Uncertain significance (Oct 25, 2023)
20-59939262-G-A		not specified	Uncertain significance (Oct 03, 2024)
20-59939262-G-T		not specified	Uncertain significance (Nov 12, 2021)
20-59939332-G-C		not specified	Uncertain significance (Nov 13, 2024)
20-59939346-A-G		not specified	Likely benign (Sep 26, 2024)
20-59939378-G-A		not specified	Uncertain significance (Jan 17, 2025)
20-59939400-A-C		not specified	Uncertain significance (Dec 03, 2024)
20-59939541-C-T		not specified	Uncertain significance (Jul 05, 2023)
20-59939585-A-C		not specified	Uncertain significance (Feb 19, 2025)
20-59939632-C-A		not specified	Uncertain significance (May 11, 2022)
20-59939636-T-C		not specified	Likely benign (Dec 21, 2024)
20-59939664-C-T		not specified	Uncertain significance (Nov 13, 2024)
20-59939670-C-T		not specified	Uncertain significance (Oct 17, 2023)
20-59939687-C-T		not specified	Uncertain significance (Apr 07, 2022)
20-59939691-G-C		not specified	Uncertain significance (Sep 09, 2024)
20-59939696-G-A		not specified	Uncertain significance (Nov 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM217B	protein_coding	protein_coding	ENST00000358293	1	14917

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	0.109	204	208	0.979	0.0000108	2492
Missense in Polyphen		49	50.04	0.97921		696
Synonymous	-0.450	87	81.8	1.06	0.00000457	789
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

Intolerance Scores

• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

• pHI: 0.0778
• hipred: N
• hipred_score: 0.123
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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: Fam217b
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Cellular component: nucleoplasm;cytosol