Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000445.4(PLEC):c.11518C>T (p.Arg3840Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jan 19, 2018
Accession:
VCV000167503.1
Variation ID:
167503
Description:
single nucleotide variant
Help

NM_000445.4(PLEC):c.11518C>T (p.Arg3840Cys)

Allele ID
177383
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 143918384 (GRCh38) GRCh38 UCSC
8: 144992552 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.144992552G>A
NC_000008.11:g.143918384G>A
NM_000445.4:c.11518C>T NP_000436.2:p.Arg3840Cys
... more HGVS
Protein change
R3781C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Exome Aggregation Consortium (ExAC) 0.00039
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00025
The Genome Aggregation Database (gnomAD) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00031
Links
dbSNP: rs201666443
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 19, 2018 RCV000153732.4
Uncertain significance 1 criteria provided, single submitter Nov 14, 2017 RCV000648487.1
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
Uncertain significance
(Nov 14, 2017)
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: SCV000770307.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 3840 of the PLEC protein (p.Arg3840Cys). The arginine residue is moderately conserved and there is a ... (more)
Uncertain significance
(Jan 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000203293.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

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

Record last updated Jun 22, 2019