NM_001366385.1(CARD14):c.633G>A (p.Glu211=) AND Pityriasis rubra pilaris

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jul 14, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV001554814.4

Allele description [Variation Report for NM_001366385.1(CARD14):c.633G>A (p.Glu211=)]

NM_001366385.1(CARD14):c.633G>A (p.Glu211=)

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.633G>A (p.Glu211=)

HGVS:

NC_000017.11:g.80184196G>A
NG_032778.1:g.19205G>A
NM_001257970.1:c.633G>A
NM_001366385.1:c.633G>AMANE SELECT
NM_024110.4:c.633G>A
NP_001244899.1:p.Glu211=
NP_001353314.1:p.Glu211=
NP_077015.2:p.Glu211=
LRG_1330t1:c.633G>A
LRG_1330:g.19205G>A
LRG_1330p1:p.Glu211=
NC_000017.10:g.78157995G>A
NR_047566.2:n.828G>A
p.Glu211Glu

Links:

dbSNP: rs4889990

NCBI 1000 Genomes Browser:

rs4889990

Molecular consequence:

NR_047566.2:n.828G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001257970.1:c.633G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001366385.1:c.633G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_024110.4:c.633G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001776120	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004032429	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain significance	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 31971603, 22521419, 26203641, 36221432, 36174714 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001776120

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 14, 2021)

germline

clinical testing

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

SCV004032429

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain significance

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Psoriasis and Genetics.

Dand N, Mahil SK, Capon F, Smith CH, Simpson MA, Barker JN.

Acta Derm Venereol. 2020 Jan 30;100(3):adv00030. doi: 10.2340/00015555-3384. Review.

PubMed [citation]

PMID:: 31971603
PMCID:: PMC9128944

See all PubMed Citations (6)

Details of each submission

From Genome-Nilou Lab, SCV001776120.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV004032429.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris.However, the role of rs4889990 is yet to be ascertained.

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

Last Updated: Sep 29, 2024

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