FAM186A

family with sequence similarity 186 member A

Basic information

Region (hg38): 12:50326230-50396622

Links

ENSG00000185958 ∙ NCBI:121006 ∙ ∙ HGNC:26980 ∙ Uniprot:A6NE01 ∙ 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 FAM186A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM186A 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				19		19
missense			118	16	2	136
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	118	36	2

Variants in FAM186A

This is a list of pathogenic ClinVar variants found in the FAM186A region.

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

Position	Type	Phenotype	Significance	ClinVar
12-50327375-T-C			Likely benign (Jan 01, 2024)
12-50327398-C-A		not specified	Uncertain significance (Dec 03, 2024)
12-50330574-G-A		not specified	Uncertain significance (Sep 09, 2024)
12-50330627-A-C		not specified	Uncertain significance (Jun 28, 2023)
12-50330655-C-A		not specified	Uncertain significance (Dec 08, 2023)
12-50330745-G-T		not specified	Uncertain significance (Jan 24, 2023)
12-50331691-G-A		not specified	Uncertain significance (Apr 13, 2022)
12-50331739-A-G		not specified	Uncertain significance (Sep 11, 2024)
12-50331757-A-G		not specified	Uncertain significance (Mar 30, 2024)
12-50331807-A-T		not specified	Uncertain significance (Sep 26, 2024)
12-50333916-T-G		not specified	Uncertain significance (Jan 03, 2024)
12-50333944-C-A		not specified	Uncertain significance (Nov 09, 2023)
12-50333999-T-C		not specified	Uncertain significance (Dec 20, 2023)
12-50334006-C-T		not specified	Likely benign (Jul 06, 2021)
12-50334028-C-T			Benign (Jul 13, 2018)
12-50334077-G-T		not specified	Uncertain significance (Aug 14, 2024)
12-50334087-G-A			Likely benign (Nov 01, 2024)
12-50350342-T-A		not specified	Uncertain significance (Sep 14, 2023)
12-50350350-T-C		not specified	Uncertain significance (Aug 11, 2024)
12-50350357-T-C		not specified	Uncertain significance (Dec 26, 2023)
12-50350435-G-A		not specified	Uncertain significance (Aug 02, 2023)
12-50350453-C-T		not specified	Uncertain significance (Aug 04, 2023)
12-50350469-C-G		not specified	Uncertain significance (Jan 26, 2022)
12-50350523-C-A		not specified	Uncertain significance (May 16, 2022)
12-50350552-G-T		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM186A	protein_coding	protein_coding	ENST00000327337	8	70393

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.30e-27	0.993	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.49	765	1.09e+3	0.703	0.0000526	15196
Missense in Polyphen		181	243.25	0.74409		3797
Synonymous	3.55	326	418	0.779	0.0000212	4658
Loss of Function	3.15	56	87.9	0.637	0.00000444	1109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 4.33
• rvis_percentile_EVS: 99.73

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0320

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam186a