NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) AND Papulosquamous eruptions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000845187.1

Allele description [Variation Report for NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro)]

NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro)

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.371T>C (p.Leu124Pro)

HGVS:

NC_000017.11:g.80183934T>C
NG_032778.1:g.18943T>C
NM_001257970.1:c.371T>C
NM_001366385.1:c.371T>CMANE SELECT
NM_024110.4:c.371T>C
NP_001244899.1:p.Leu124Pro
NP_001353314.1:p.Leu124Pro
NP_077015.2:p.Leu124Pro
LRG_1330t1:c.371T>C
LRG_1330:g.18943T>C
LRG_1330p1:p.Leu124Pro
NC_000017.10:g.78157733T>C
NC_000017.10:g.78157733T>C
NR_047566.2:n.566T>C

Protein change:

L124P

Links:

dbSNP: rs1598639617

NCBI 1000 Genomes Browser:

rs1598639617

Molecular consequence:

NM_001257970.1:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001366385.1:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.566T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Papulosquamous eruptions
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000987123	Yale Center for Mendelian Genomics, Yale University	no assertion criteria provided	Pathogenic (Mar 1, 2018)	de novo	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000987123

Yale Center for Mendelian Genomics, Yale University

no assertion criteria provided

Pathogenic
(Mar 1, 2018)

de novo

literature only

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	de novo	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, et al.

J Am Acad Dermatol. 2018 Sep;79(3):487-494. doi: 10.1016/j.jaad.2018.02.034. Epub 2018 Mar 1.

PubMed [citation]

PMID:: 29477734
PMCID:: PMC6098739

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000987123.1

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

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

Last Updated: Sep 29, 2024

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