FAM216A

family with sequence similarity 216 member A

Basic information

Region (hg38): 12:110468415-110490385

Previous symbols: [ "C12orf24" ]

Links

ENSG00000204856 ∙ NCBI:29902 ∙ ∙ HGNC:30180 ∙ Uniprot:Q8WUB2 ∙ 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 FAM216A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM216A 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			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	0

Variants in FAM216A

This is a list of pathogenic ClinVar variants found in the FAM216A region.

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

Position	Type	Phenotype	Significance	ClinVar
12-110468885-C-G		not specified	Uncertain significance (Oct 21, 2021)
12-110468901-C-G		not specified	Uncertain significance (Mar 07, 2025)
12-110468901-C-T		not specified	Uncertain significance (Oct 16, 2024)
12-110468906-C-G		not specified	Uncertain significance (Oct 06, 2021)
12-110468909-G-A		not specified	Uncertain significance (Mar 25, 2024)
12-110468934-G-T		not specified	Uncertain significance (Feb 22, 2024)
12-110468937-A-G		not specified	Uncertain significance (Aug 26, 2024)
12-110468953-C-A		not specified	Uncertain significance (Aug 27, 2024)
12-110468966-A-C		not specified	Uncertain significance (Jan 08, 2025)
12-110468988-C-G		not specified	Uncertain significance (Dec 26, 2023)
12-110469000-C-T		not specified	Uncertain significance (Jul 05, 2022)
12-110473092-C-T		not specified	Uncertain significance (Dec 28, 2024)
12-110473095-G-T		not specified	Uncertain significance (Dec 23, 2024)
12-110486352-C-T		not specified	Uncertain significance (Feb 21, 2024)
12-110486353-G-A		not specified	Uncertain significance (Mar 21, 2023)
12-110486368-T-C		not specified	Uncertain significance (Mar 02, 2023)
12-110486413-G-A		not specified	Uncertain significance (Mar 06, 2023)
12-110486445-C-G		not specified	Uncertain significance (Dec 05, 2024)
12-110486446-A-G		not specified	Uncertain significance (Jan 31, 2024)
12-110486450-G-C		not specified	Uncertain significance (Nov 09, 2021)
12-110486558-G-A		not specified	Likely benign (Jan 26, 2022)
12-110486563-A-C		not specified	Uncertain significance (Feb 13, 2025)
12-110486569-C-A		not specified	Uncertain significance (Apr 12, 2022)
12-110486572-T-C		not specified	Uncertain significance (Apr 24, 2024)
12-110486576-C-T		not specified	Uncertain significance (Jan 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM216A	protein_coding	protein_coding	ENST00000377673	7	22022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0335	0.959	125679	0	66	125745	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.173	138	144	0.960	0.00000719	1766
Missense in Polyphen		32	45.79	0.69884		586
Synonymous	0.505	47	51.6	0.911	0.00000264	500
Loss of Function	2.33	5	14.6	0.342	7.02e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000640	0.000638
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000317	0.000316
Middle Eastern	0.000109	0.000109
South Asian	0.000363	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.0469
• hipred: N
• hipred_score: 0.146
• ghis: 0.526

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: Fam216a