NM_001366385.1(CARD14):c.536G>A (p.Arg179His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 23, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000059704.2

Allele description [Variation Report for NM_001366385.1(CARD14):c.536G>A (p.Arg179His)]

NM_001366385.1(CARD14):c.536G>A (p.Arg179His)

Gene:

CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001366385.1(CARD14):c.536G>A (p.Arg179His)

HGVS:

NC_000017.11:g.80184099G>A
NG_032778.1:g.19108G>A
NM_001257970.1:c.536G>A
NM_001366385.1:c.536G>AMANE SELECT
NM_024110.4:c.536G>A
NP_001244899.1:p.Arg179His
NP_001353314.1:p.Arg179His
NP_077015.2:p.Arg179His
LRG_1330t1:c.536G>A
LRG_1330:g.19108G>A
LRG_1330p1:p.Arg179His
NC_000017.10:g.78157898G>A
NR_047566.2:n.731G>A
Q9BXL6:p.Arg179His

Protein change:

R179H

Links:

UniProtKB: Q9BXL6#VAR_068231; UniProtKB/Swiss-Prot: VAR_068231; dbSNP: rs199517469

NCBI 1000 Genomes Browser:

rs199517469

Molecular consequence:

NM_001257970.1:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366385.1:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.731G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000091274	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV004224443	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 23, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22521419, 25989471, 28887889, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000091274

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

SCV004224443

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 23, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, et al.

Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19.

PubMed [citation]

PMID:: 22521419
PMCID:: PMC3376540

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Mössner R, Frambach Y, Wilsmann-Theis D, Löhr S, Jacobi A, Weyergraf A, Müller M, Philipp S, Renner R, Traupe H, Burkhardt H, Kingo K, Kõks S, Uebe S, Sticherling M, Sticht H, Oji V, Hüffmeier U.

J Invest Dermatol. 2015 Oct;135(10):2538-2541. doi: 10.1038/jid.2015.186. Epub 2015 May 19. No abstract available.

PubMed [citation]

PMID:: 25989471

See all PubMed Citations (4)

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091274.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224443.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

BP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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