PERCC1

proline and glutamate rich with coiled coil 1

Basic information

Region (hg38): 16:1431078-1434441

Links

ENSG00000284395 ∙ NCBI:105371045 ∙ OMIM:618656 ∙ HGNC:52293 ∙ Uniprot:A0A1W2PR82 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diarrhea 11, malabsorptive, congenital	AR	Gastrointestinal	The condition can involve severe and early-onset diarrhea, and awareness may help with management (eg, via parenteral nutrition, which has been described as necessary)	Gastrointestinal	31217582
Noncoding variants in what has been designated as an intestine critical region (ICR) affect expression of the PERCC1 gene

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PERCC1 gene.

• Diarrhea 11, malabsorptive, congenital (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PERCC1 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				2		2
missense			1			1
nonsense	1	1				2
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	1	1	2	0

Highest pathogenic variant AF is 0.0000788

Variants in PERCC1

This is a list of pathogenic ClinVar variants found in the PERCC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-1432638-C-T			Likely benign (Jun 01, 2024)
16-1432941-C-G		Diarrhea 11, malabsorptive, congenital	Likely pathogenic (Aug 17, 2023)
16-1432983-C-G		Diarrhea 11, malabsorptive, congenital	Pathogenic (Jul 05, 2024)
16-1433134-G-A		Diarrhea 11, malabsorptive, congenital	Uncertain significance (-)
16-1433256-G-A			Likely benign (Jul 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP