FAM25C

family with sequence similarity 25 member C

Basic information

Region (hg38): 10:47995321-47999791

Links

ENSG00000276430 ∙ NCBI:644054 ∙ ∙ HGNC:23586 ∙ Uniprot:B3EWG5 ∙ 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 FAM25C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM25C 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in FAM25C

This is a list of pathogenic ClinVar variants found in the FAM25C region.

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

Position	Type	Phenotype	Significance	ClinVar
10-47995383-G-C		not specified	Uncertain significance (Jun 10, 2024)
10-47995464-T-A		not specified	Uncertain significance (Feb 22, 2023)
10-47997700-T-C		not specified	Uncertain significance (Jun 13, 2023)
10-47997731-C-T		not specified	Uncertain significance (Apr 07, 2022)
10-47999702-C-G		not specified	Uncertain significance (May 03, 2023)
10-47999702-C-T		not specified	Uncertain significance (Mar 21, 2023)
10-47999714-C-T		not specified	Uncertain significance (Nov 29, 2023)
10-47999720-G-A		not specified	Uncertain significance (Sep 27, 2021)
10-47999735-C-T		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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