FAM166A

family with sequence similarity 166 member A

Basic information

Region (hg38): 9:137243583-137247770

Links

ENSG00000188163 ∙ NCBI:401565 ∙ ∙ HGNC:33818 ∙ Uniprot:Q6J272 ∙ 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 FAM166A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM166A 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				1		1
missense			55	3	1	59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	4	1

Variants in FAM166A

This is a list of pathogenic ClinVar variants found in the FAM166A region.

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

Position	Type	Phenotype	Significance	ClinVar
9-137243709-G-T		not specified	Likely benign (Feb 27, 2025)
9-137243716-C-T		not specified	Uncertain significance (Feb 13, 2025)
9-137243723-C-T		not specified	Uncertain significance (Feb 13, 2025)
9-137243747-G-A		not specified	Uncertain significance (Oct 27, 2023)
9-137243755-T-C		not specified	Uncertain significance (Dec 07, 2023)
9-137243786-T-G		not specified	Uncertain significance (Nov 21, 2022)
9-137244173-G-A		not specified	Uncertain significance (Jan 24, 2024)
9-137244178-G-T		not specified	Uncertain significance (Oct 12, 2021)
9-137244186-T-C		not specified	Uncertain significance (Oct 20, 2023)
9-137244218-A-C		not specified	Uncertain significance (Feb 17, 2024)
9-137244219-T-C		not specified	Uncertain significance (May 15, 2024)
9-137244230-G-A		not specified	Uncertain significance (Jun 27, 2022)
9-137244269-T-C		not specified	Uncertain significance (Oct 17, 2023)
9-137244649-T-C		not specified	Uncertain significance (May 28, 2024)
9-137244653-C-T		not specified	Uncertain significance (Jun 23, 2021)
9-137244659-C-T		not specified	Uncertain significance (Aug 06, 2024)
9-137244661-T-C		not specified	Uncertain significance (Aug 17, 2021)
9-137244680-C-T		not specified	Uncertain significance (Feb 27, 2024)
9-137244716-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-137245095-T-C		not specified	Uncertain significance (Oct 24, 2023)
9-137245097-G-A		not specified	Uncertain significance (Sep 07, 2022)
9-137245104-G-A		not specified	Uncertain significance (Jan 24, 2025)
9-137245119-G-T		not specified	Uncertain significance (Dec 08, 2023)
9-137245133-G-A		not specified	Uncertain significance (Aug 22, 2023)
9-137245158-C-G		not specified	Uncertain significance (Jan 17, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM166A	protein_coding	protein_coding	ENST00000344774	7	4187

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-12	0.0164	124236	5	1417	125658	0.00567

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.21	287	199	1.44	0.0000120	2067
Missense in Polyphen		77	64.287	1.1977		662
Synonymous	-2.36	111	83.5	1.33	0.00000565	596
Loss of Function	-0.422	17	15.2	1.12	7.35e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0101	0.0101
Ashkenazi Jewish	0.00449	0.00448
East Asian	0.000163	0.000163
Finnish	0.00416	0.00412
European (Non-Finnish)	0.00825	0.00820
Middle Eastern	0.000163	0.000163
South Asian	0.00235	0.00232
Other	0.00638	0.00638

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.86

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam166a

Gene ontology

• Cellular component: nucleus