NM_001366385.1(CARD14):c.451C>T (p.Arg151Trp) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 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:: RCV001209536.7

Allele description [Variation Report for NM_001366385.1(CARD14):c.451C>T (p.Arg151Trp)]

NM_001366385.1(CARD14):c.451C>T (p.Arg151Trp)

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.451C>T (p.Arg151Trp)

HGVS:

NC_000017.11:g.80184014C>T
NG_032778.1:g.19023C>T
NM_001257970.1:c.451C>T
NM_001366385.1:c.451C>TMANE SELECT
NM_024110.4:c.451C>T
NP_001244899.1:p.Arg151Trp
NP_001353314.1:p.Arg151Trp
NP_077015.2:p.Arg151Trp
LRG_1330t1:c.451C>T
LRG_1330:g.19023C>T
LRG_1330p1:p.Arg151Trp
NC_000017.10:g.78157813C>T
NR_047566.2:n.646C>T

Protein change:

R151W

Links:

dbSNP: rs777305616

NCBI 1000 Genomes Browser:

rs777305616

Molecular consequence:

NM_001257970.1:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001366385.1:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.646C>T - 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

Name:: Psoriasis 2
Identifiers:: MONDO: MONDO:0011269; MedGen: C1864497; OMIM: 602723

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001380976	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 8, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26358359, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001380976

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 8, 2022)

germline

clinical testing

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.

Ammar M, Jordan CT, Cao L, Lim E, Bouchlaka Souissi C, Jrad A, Omrane I, Kouidhi S, Zaraa I, Anbunathan H, Mokni M, Doss N, Guttman-Yassky E, El Gaaied AB, Menter A, Bowcock AM.

Br J Dermatol. 2016 Feb;174(2):330-7. doi: 10.1111/bjd.14158. Epub 2015 Nov 17.

PubMed [citation]

PMID:: 26358359
PMCID:: PMC5444086

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001380976.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 151 of the CARD14 protein (p.Arg151Trp). This missense change has been observed in individual(s) with psoriasis (PMID: 26358359). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects CARD14 function (PMID: 26358359). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARD14 protein function. ClinVar contains an entry for this variant (Variation ID: 940033).

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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