TMEM238

transmembrane protein 238

Basic information

Region (hg38): 19:55379244-55384292

Links

ENSG00000233493 ∙ NCBI:388564 ∙ ∙ HGNC:40042 ∙ Uniprot:C9JI98 ∙ 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 TMEM238 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM238 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			15	1	1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	1

Variants in TMEM238

This is a list of pathogenic ClinVar variants found in the TMEM238 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55383823-G-A		not specified	Uncertain significance (Apr 20, 2024)
19-55383824-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-55383830-C-A		not specified	Uncertain significance (Jun 10, 2024)
19-55383845-T-C		not specified	Uncertain significance (Apr 07, 2023)
19-55383854-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-55383863-G-C		not specified	Uncertain significance (Apr 07, 2023)
19-55383868-T-C		not specified	Uncertain significance (Apr 07, 2023)
19-55383874-G-C		not specified	Uncertain significance (Feb 28, 2023)
19-55383937-C-T		not specified	Uncertain significance (Dec 31, 2023)
19-55383958-A-G		not specified	Uncertain significance (Feb 06, 2023)
19-55384022-A-G		not specified	Uncertain significance (Feb 28, 2023)
19-55384057-C-T		not specified	Uncertain significance (Sep 29, 2023)
19-55384177-G-A		not specified	Likely benign (May 06, 2022)
19-55384201-G-A		not specified	Uncertain significance (Feb 01, 2023)
19-55384213-C-T		not specified	Uncertain significance (Feb 13, 2024)
19-55384216-G-A		not specified	Uncertain significance (May 27, 2022)
19-55384220-G-A			Benign (Dec 31, 2019)
19-55384228-T-C		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM238	protein_coding	protein_coding	ENST00000444469	1	5354

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.294	0.501	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.695	15	24.7	0.607	0.00000118	1043
Missense in Polyphen		6	7.0294	0.85356		152
Synonymous	0.773	10	13.6	0.734	6.80e-7	451
Loss of Function	0.329	0	0.126	0.00	5.48e-9	2

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

Haploinsufficiency Scores

• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• 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: Tmem238

Gene ontology

• Cellular component: integral component of membrane