FAM166C

family with sequence similarity 166 member C

Basic information

Region (hg38): 2:26562584-26579532

Previous symbols: [ "C2orf70" ]

Links

ENSG00000173557 ∙ NCBI:339778 ∙ ∙ HGNC:27938 ∙ Uniprot:A6NJV1 ∙ 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 FAM166C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM166C 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in FAM166C

This is a list of pathogenic ClinVar variants found in the FAM166C region.

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

Position	Type	Phenotype	Significance	ClinVar
2-26575951-G-A		not specified	Uncertain significance (Nov 15, 2021)
2-26575961-C-A		not specified	Uncertain significance (Nov 09, 2021)
2-26575978-G-T		not specified	Uncertain significance (Aug 02, 2021)
2-26576162-C-T		not specified	Uncertain significance (Aug 02, 2021)
2-26577573-C-T		not specified	Uncertain significance (Aug 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM166C	protein_coding	protein_coding	ENST00000329615	4	16951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000509	0.449	124774	0	25	124799	0.000100

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0177	128	129	0.996	0.00000846	1289
Missense in Polyphen		42	38.57	1.0889		391
Synonymous	0.313	49	51.9	0.945	0.00000334	400
Loss of Function	0.366	7	8.13	0.862	4.13e-7	88

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000252	0.000252
Ashkenazi Jewish	0.00	0.00
East Asian	0.000278	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.0000884	0.0000883
Middle Eastern	0.000278	0.000278
South Asian	0.0000981	0.0000980
Other	0.000330	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.576
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 1700001C02Rik
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Cellular component: nucleus