FAM219B

family with sequence similarity 219 member B

Basic information

Region (hg38): 15:74899991-74906883

Previous symbols: [ "C15orf17" ]

Links

ENSG00000178761 ∙ NCBI:57184 ∙ ∙ HGNC:24695 ∙ Uniprot:Q5XKK7 ∙ 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 FAM219B gene.

• Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM219B 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in FAM219B

This is a list of pathogenic ClinVar variants found in the FAM219B region.

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

Position	Type	Phenotype	Significance	ClinVar
15-74902663-A-G		not specified	Uncertain significance (Jan 31, 2024)
15-74902675-T-C		not specified	Likely benign (Dec 27, 2022)
15-74902684-C-T		not specified	Uncertain significance (Jan 22, 2024)
15-74902687-T-A		not specified	Uncertain significance (Mar 07, 2023)
15-74902692-T-G		not specified	Uncertain significance (Jan 31, 2023)
15-74902717-C-T		not specified	Uncertain significance (Dec 07, 2021)
15-74902784-C-G		not specified	Uncertain significance (Sep 17, 2021)
15-74905160-G-T		not specified	Uncertain significance (May 09, 2023)
15-74905191-T-G		not specified	Uncertain significance (Aug 12, 2021)
15-74905227-C-G		not specified	Uncertain significance (Sep 15, 2021)
15-74906312-C-A		not specified	Uncertain significance (Jan 23, 2023)
15-74906623-T-C		not specified	Uncertain significance (Dec 11, 2023)
15-74906659-G-A		not specified	Uncertain significance (Jan 05, 2022)
15-74906662-C-T		not specified	Uncertain significance (Oct 04, 2022)
15-74906677-C-T		not specified	Uncertain significance (Dec 09, 2023)
15-74906700-G-A		not specified	Uncertain significance (Nov 29, 2023)
15-74906740-T-C		not specified	Likely benign (Mar 04, 2024)
15-74906746-G-A		not specified	Uncertain significance (May 11, 2022)
15-74906773-C-G		not specified	Uncertain significance (Mar 22, 2023)
15-74906786-C-A		not specified	Uncertain significance (Mar 08, 2024)
15-74906787-T-C		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM219B	protein_coding	protein_coding	ENST00000357635	5	7135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000157	0.452	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0603	96	94.4	1.02	0.00000455	1229
Missense in Polyphen		36	41.576	0.86589		515
Synonymous	1.84	27	42.2	0.639	0.00000212	428
Loss of Function	0.254	6	6.71	0.894	2.88e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000275	0.000275
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.000132	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.197
• ghis: 0.558

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: Fam219b