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NM_000445.4(PLEC):c.7911G>A (p.Ala2637=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 19, 2018)
Last evaluated:
Nov 1, 2017
Accession:
VCV000167506.1
Variation ID:
167506
Description:
single nucleotide variant
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NM_000445.4(PLEC):c.7911G>A (p.Ala2637=)

Allele ID
177961
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 143921991 (GRCh38) GRCh38 UCSC
8: 144996159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.144996159C>T
NC_000008.11:g.143921991C>T
NM_000445.4:c.7911G>A NP_000436.2:p.Ala2637= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00081
The Genome Aggregation Database (gnomAD), exomes 0.00027
Exome Aggregation Consortium (ExAC) 0.00035
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00123
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00082
Links
dbSNP: rs376112916
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 15, 2016 RCV000153735.5
Benign 1 criteria provided, single submitter Aug 17, 2017 RCV000648601.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 1, 2017 RCV000712761.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000533557.4
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)
Uncertain significance
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000203298.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Benign
(Aug 17, 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: SCV000770421.1
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843285.1
Submitted: (Aug 31, 2018)
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