U.S. flag

An official website of the United States government

NM_001366385.1(CARD14):c.349+5G>C 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:
RCV000845183.1

Allele description [Variation Report for NM_001366385.1(CARD14):c.349+5G>C]

NM_001366385.1(CARD14):c.349+5G>C

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.349+5G>C
HGVS:
  • NC_000017.11:g.80182795G>C
  • NG_032778.1:g.17804G>C
  • NM_001257970.1:c.349+5G>C
  • NM_001366385.1:c.349+5G>CMANE SELECT
  • NM_024110.4:c.349+5G>C
  • LRG_1330t1:c.349+5G>C
  • LRG_1330:g.17804G>C
  • NC_000017.10:g.78156594G>C
  • NM_001366385.1:c.349+5G>C
Links:
dbSNP: rs587777763
NCBI 1000 Genomes Browser:
rs587777763
Molecular consequence:
  • NM_001257970.1:c.349+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366385.1:c.349+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024110.4:c.349+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Papulosquamous eruptions
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000987119Yale Center for Mendelian Genomics, Yale University
no assertion criteria provided
Pathogenic
(Mar 1, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature 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, SCV000987119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 22, 2023