CARD19

caspase recruitment domain family member 19, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 9:93096217-93113283

Previous symbols: [ "C9orf89" ]

Links

ENSG00000165233 ∙ NCBI:84270 ∙ OMIM:617726 ∙ HGNC:28148 ∙ Uniprot:Q96LW7 ∙ 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 CARD19 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD19 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				1		1
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in CARD19

This is a list of pathogenic ClinVar variants found in the CARD19 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-93107707-C-T		not specified	Uncertain significance (Jan 19, 2024)
9-93107730-C-T		not specified	Uncertain significance (Jun 29, 2023)
9-93107810-G-A			Likely benign (Dec 01, 2022)
9-93110571-C-T		not specified	Uncertain significance (Oct 22, 2021)
9-93110572-G-A		not specified	Uncertain significance (Jun 11, 2021)
9-93110592-C-A		not specified	Uncertain significance (May 06, 2022)
9-93110592-C-T		not specified	Uncertain significance (Dec 28, 2022)
9-93110598-C-T		not specified	Uncertain significance (Jan 04, 2022)
9-93110640-C-T		not specified	Uncertain significance (Jan 03, 2024)
9-93110698-G-T		not specified	Uncertain significance (Nov 13, 2023)
9-93111915-A-C		not specified	Uncertain significance (Mar 19, 2024)
9-93113018-C-A		not specified	Uncertain significance (May 08, 2023)
9-93113021-G-A		not specified	Uncertain significance (Dec 07, 2023)
9-93113027-G-A		not specified	Uncertain significance (Oct 20, 2021)
9-93113034-C-T		not specified	Uncertain significance (Feb 28, 2024)
9-93113052-G-C		not specified	Uncertain significance (Jan 10, 2022)
9-93113064-G-A		not specified	Uncertain significance (Aug 16, 2022)
9-93113064-G-C		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CARD19	protein_coding	protein_coding	ENST00000375464	6	17066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000593	0.464	125681	0	58	125739	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0482	119	120	0.988	0.00000823	1163
Missense in Polyphen		42	44.401	0.94592		434
Synonymous	-0.0288	49	48.7	1.01	0.00000291	379
Loss of Function	0.585	9	11.1	0.810	7.41e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00209	0.00207
Finnish	0.000163	0.000139
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.00209	0.00207
South Asian	0.0000329	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner. {ECO:0000269|PubMed:15637807}.

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.177
• ghis: 0.549

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Card19

Gene ontology

• Biological process: negative regulation of I-kappaB kinase/NF-kappaB signaling
• Cellular component: nucleus;mitochondrion;endoplasmic reticulum membrane;cytosol;integral component of membrane;mitochondrial membrane
• Molecular function: CARD domain binding