Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: May 20, 2019)
Last evaluated:
Feb 1, 2018
Accession:
VCV000167508.2
Variation ID:
167508
Description:
single nucleotide variant
Help

NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp)

Allele ID
177252
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 143924453 (GRCh38) GRCh38 UCSC
8: 144998621 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.143924453G>A
NC_000008.10:g.144998621G>A
NM_000445.4:c.5557C>T NP_000436.2:p.Arg1853Trp
... more HGVS
Protein change
R1794W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00309
Trans-Omics for Precision Medicine (TOPMed) 0.00358
1000 Genomes Project 0.00339
Exome Aggregation Consortium (ExAC) 0.00979
Links
dbSNP: rs200575795
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Feb 1, 2018 RCV000153737.7
Likely benign 1 criteria provided, single submitter Sep 12, 2017 RCV000514446.1
Benign 1 criteria provided, single submitter Jan 11, 2018 RCV000538513.2
Likely benign 1 criteria provided, single submitter - RCV000785607.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEC - - GRCh38
GRCh37
1835 1892

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610910.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514143.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Jan 11, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000650325.2
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Jun 10, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000331970.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely benign
(-)
criteria provided, single submitter
Method: research
Arrhythmogenic right ventricular dysplasia, familial 1
Allele origin: unknown
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
Accession: SCV000924186.1
Submitted: (May 20, 2019)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PLEC - - - -

Record last updated Jun 17, 2019