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NM_000445.4(PLEC):c.2632G>A (p.Val878Met)

Variation ID: Help
195656
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely benign(3);Uncertain significance(1)
Last evaluated:
Dec 28, 2017
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000445.4(PLEC):c.2632G>A (p.Val878Met)

Allele ID:
192817
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
  • Chr8: 143930205 (on Assembly GRCh38)
  • Chr8: 145004373 (on Assembly GRCh37)
Protein change:
V819M, V829M, V837M, V851M, V855M, V878M, V988M
HGVS:
  • NG_012492.1:g.51541G>A
  • NM_000445.4:c.2632G>A
  • NM_201378.3:c.2509G>A
  • NM_201379.2:c.2485G>A
  • NM_201380.3:c.2962G>A
  • NM_201381.2:c.2455G>A
  • NM_201382.3:c.2551G>A
  • NM_201383.2:c.2563G>A
  • NM_201384.2:c.2551G>A
  • NP_000436.2:p.Val878Met
  • NP_958780.1:p.Val837Met
  • NP_958781.1:p.Val829Met
  • NP_958782.1:p.Val988Met
  • NP_958783.1:p.Val819Met
  • NP_958784.1:p.Val851Met
  • NP_958785.1:p.Val855Met
  • NP_958786.1:p.Val851Met
  • NC_000008.11:g.143930205C>T (GRCh38)
  • NC_000008.10:g.145004373C>T (GRCh37)
  • NM_000445.3:c.2632G>A
Links:
NCBI 1000 Genomes Browser:
rs200647397
Molecular consequence:
NM_000445.4:c.2632G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00180 (T)
  • 1000 Genomes Project 0.00180
  • Exome Aggregation Consortium (ExAC) 0.00085
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00104
  • The Genome Aggregation Database (gnomAD) 0.00175
  • The Genome Aggregation Database (gnomAD), exomes 0.00055
  • Trans-Omics for Precision Medicine (TOPMed) 0.00139

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Dec 17, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000335982.3
Likely benign
(Dec 28, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000650212.2
    Likely benign
    (Oct 17, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000730766.1
      Likely benign
      (Dec 28, 2017)
      criteria provided, single submitter
      clinical testinggermline
        Athena Diagnostics IncSCV000843251.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided3germlinenot providednot provided
        Athena Diagnostics Incnot providednot providedgermlinenot providednot providednot providednot provided
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided3germlinenot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
        Invitaenot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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