NM_001366385.1(CARD14):c.2503del (p.Arg835fs) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2023
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:: RCV003795293.2

Allele description [Variation Report for NM_001366385.1(CARD14):c.2503del (p.Arg835fs)]

NM_001366385.1(CARD14):c.2503del (p.Arg835fs)

Genes:

LOC126862662:MED14-independent group 3 enhancer GRCh37_chr17:78178385-78179584 [Gene]
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001366385.1(CARD14):c.2503del (p.Arg835fs)

HGVS:

NC_000017.11:g.80205139del
NG_008229.2:g.20194del
NG_032778.1:g.40148del
NG_087159.1:g.654del
NM_001366385.1:c.2503delMANE SELECT
NM_024110.4:c.2503del
NP_001353314.1:p.Arg835fs
NP_077015.2:p.Arg835fs
LRG_1330t1:c.2503del
LRG_1330:g.40148del
LRG_1330p1:p.Arg835fs
NC_000017.10:g.78178938del
NR_047566.2:n.2640del

Protein change:

R835fs

Molecular consequence:

NM_001366385.1:c.2503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024110.4:c.2503del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047566.2:n.2640del - 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

Recent activity

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Apis mellifera scutellata isolate A_m_scut internal transcribed spacer 1, partia...
Apis mellifera scutellata isolate A_m_scut internal transcribed spacer 1, partial sequence
gi|76160890|gb|DQ195232.1|

Nucleotide
Homo sapiens mRNA; cDNA DKFZp686L0872 (from clone DKFZp686L0872)
Homo sapiens mRNA; cDNA DKFZp686L0872 (from clone DKFZp686L0872)
gi|31874558|emb|BX538131.1|

Nucleotide
Homo sapiens cDNA FLJ39068 fis, clone NT2RP7015080
Homo sapiens cDNA FLJ39068 fis, clone NT2RP7015080
gi|21755867|dbj|AK096387.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004579194	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 26, 2023)	germline	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

SCV004579194

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 26, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV004579194.1

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

Description

This variant has not been reported in the literature in individuals affected with CARD14-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg835Glyfs*7) in the CARD14 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARD14 cause disease.

#	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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