TMEM186

transmembrane protein 186, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 16:8780383-8797642

Previous symbols: [ "C16orf51" ]

Links

ENSG00000184857 ∙ NCBI:25880 ∙ ∙ HGNC:24530 ∙ Uniprot:Q96B77 ∙ 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 TMEM186 gene.

• Inborn genetic diseases (19 variants)
• not specified (6 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM186 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			18	1		19
nonsense						0
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3	2	1	6
Total	0	0	21	4	1

Variants in TMEM186

This is a list of pathogenic ClinVar variants found in the TMEM186 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-8781189-TGATG-T		Gamma-aminobutyric acid transaminase deficiency	Benign (Jul 14, 2021)
16-8781293-C-T		Gamma-aminobutyric acid transaminase deficiency	Likely benign (May 16, 2022)
16-8781299-C-T		Gamma-aminobutyric acid transaminase deficiency	Likely benign (Sep 01, 2022)
16-8781300-C-T		Gamma-aminobutyric acid transaminase deficiency	Likely benign (Jul 07, 2023)
16-8781311-G-A		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (May 25, 2022)
16-8781314-G-A		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Dec 25, 2021)
16-8781316-G-A		Gamma-aminobutyric acid transaminase deficiency	Conflicting classifications of pathogenicity (Aug 09, 2022)
16-8781319-G-A		Gamma-aminobutyric acid transaminase deficiency	Likely benign (Jan 27, 2024)
16-8781320-G-C		Gamma-aminobutyric acid transaminase deficiency	Pathogenic (Feb 01, 2019)
16-8781321-G-A		Gamma-aminobutyric acid transaminase deficiency	Conflicting classifications of pathogenicity (Feb 01, 2019)
16-8781334-C-G		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Jun 29, 2022)
16-8781337-AT-GA		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Aug 11, 2018)
16-8781339-C-G		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Jun 10, 2022)
16-8781344-C-T			Uncertain significance (Mar 17, 2023)
16-8781348-T-G		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Sep 24, 2021)
16-8781350-C-T		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Jul 21, 2022)
16-8781351-G-A		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Feb 04, 2022)
16-8781352-T-A		Gamma-aminobutyric acid transaminase deficiency	Likely benign (Dec 17, 2022)
16-8781356-A-G		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Jul 19, 2022)
16-8781357-C-T		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Jun 29, 2022)
16-8781358-G-A		Gamma-aminobutyric acid transaminase deficiency	Conflicting classifications of pathogenicity (Jan 27, 2024)
16-8781360-T-C		Gamma-aminobutyric acid transaminase deficiency	Pathogenic (Jan 01, 2014)
16-8781362-G-T		Gamma-aminobutyric acid transaminase deficiency	Uncertain significance (Mar 06, 2020)
16-8781376-C-A		Gamma-aminobutyric acid transaminase deficiency • Inborn genetic diseases	Uncertain significance (Oct 20, 2022)
16-8781379-C-T		Gamma-aminobutyric acid transaminase deficiency • ABAT-related disorder	Benign (Feb 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM186	protein_coding	protein_coding	ENST00000333050	2	17265

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000520	0.453	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.25	168	128	1.31	0.00000833	1371
Missense in Polyphen		43	39.676	1.0838		446
Synonymous	-1.56	62	48.2	1.29	0.00000267	444
Loss of Function	0.375	7	8.16	0.858	5.38e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000967	0.0000967
Middle Eastern	0.000272	0.000272
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.445
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

• pHI: 0.0301
• hipred: N
• hipred_score: 0.123
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.782

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem186

Gene ontology

• Cellular component: mitochondrion;integral component of membrane