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NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 27, 2017
Accession:
VCV000527870.1
Variation ID:
527870
Description:
single nucleotide variant
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NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg)

Allele ID
532372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80205602 (GRCh38) GRCh38 UCSC
17: 78179401 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78179401G>A
NC_000017.11:g.80205602G>A
NM_001366385.1:c.2641G>A NP_001353314.1:p.Gly881Arg missense
... more HGVS
Protein change
G881R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00015
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Links
ClinGen: CA8817398
dbSNP: rs548495951
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 27, 2017 RCV000632892.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CARD14 No evidence available No evidence available GRCh38
GRCh37
145 236
SGSH - - GRCh38
GRCh37
238 338

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pityriasis rubra pilaris
Psoriasis susceptibility 2
Allele origin: germline
Invitae
Accession: SCV000754097.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 881 of the CARD14 protein (p.Gly881Arg). The glycine residue is moderately conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019