NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) AND Pityriasis rubra pilaris

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 15, 2021
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:: RCV000029229.3

Allele description [Variation Report for NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro)]

NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro)

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.467T>C (p.Leu156Pro)

HGVS:

NC_000017.11:g.80184030T>C
NG_032778.1:g.19039T>C
NM_001257970.1:c.467T>C
NM_001366385.1:c.467T>CMANE SELECT
NM_024110.4:c.467T>C
NP_001244899.1:p.Leu156Pro
NP_001353314.1:p.Leu156Pro
NP_077015.2:p.Leu156Pro
LRG_1330t1:c.467T>C
LRG_1330:g.19039T>C
LRG_1330p1:p.Leu156Pro
NC_000017.10:g.78157829T>C
NR_047566.2:n.662T>C
Q9BXL6:p.Leu156Pro

Protein change:

L156P; LEU156PRO

Links:

UniProtKB: Q9BXL6#VAR_068820; OMIM: 607211.0006; dbSNP: rs387907240

NCBI 1000 Genomes Browser:

rs387907240

Molecular consequence:

NM_001257970.1:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001366385.1:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.662T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pityriasis rubra pilaris (PRP)
Synonyms:: Pityriasis rubra pilaris--familial type
Identifiers:: MONDO: MONDO:0100017; MedGen: C0032027; Orphanet: 2897; OMIM: 173200

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conserved unknown protein [Ectocarpus siliculosus]
conserved unknown protein [Ectocarpus siliculosus]
gi|298712265|emb|CBJ26716.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000051875	OMIM	no assertion criteria provided	Pathogenic (Jul 13, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001934417	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 15, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000051875

OMIM

no assertion criteria provided

Pathogenic
(Jul 13, 2012)

germline

literature only

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

SCV001934417

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 15, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Familial pityriasis rubra pilaris is caused by mutations in CARD14.

Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E.

Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703878
PMCID:: PMC3397268

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000051875.1

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

Description

In affected members from 2 unrelated 3-generation families segregating autosomal dominant pityriasis rubra pilaris (PRP; 173200), Fuchs-Telem et al. (2012) identified heterozygosity for a 467T-C transition in exon 4 of the CARD14 gene, resulting in a leu156-to-pro (L156P) substitution at a highly conserved residue. The mutation, which segregated with disease in both families and was not found in 100 population-matched controls or in major public databases, was detected on the background of distinct haplotypes in each family, suggesting spontaneously recurrent mutational events rather than a founder effect.

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001934417.1

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

Description

Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)

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

Last Updated: Sep 29, 2024

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