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NM_000445.4(PLEC):c.3859C>G (p.Arg1287Gly)

Variation ID: Help
196148
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign/Likely benign
Last evaluated:
Dec 11, 2017
Number of submission(s):
4
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000445.4(PLEC):c.3859C>G (p.Arg1287Gly)

Allele ID:
193309
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
  • Chr8: 143927314 (on Assembly GRCh38)
  • Chr8: 145001482 (on Assembly GRCh37)
Protein change:
R1228G, R1238G, R1246G, R1260G, R1264G, R1287G, R1397G
HGVS:
  • NG_012492.1:g.54432C>G
  • NM_000445.4:c.3859C>G
  • NM_201378.3:c.3736C>G
  • NM_201379.2:c.3712C>G
  • NM_201380.3:c.4189C>G
  • NM_201381.2:c.3682C>G
  • NM_201382.3:c.3778C>G
  • NM_201383.2:c.3790C>G
  • NM_201384.2:c.3778C>G
  • NP_000436.2:p.Arg1287Gly
  • NP_958780.1:p.Arg1246Gly
  • NP_958781.1:p.Arg1238Gly
  • NP_958782.1:p.Arg1397Gly
  • NP_958783.1:p.Arg1228Gly
  • NP_958784.1:p.Arg1260Gly
  • NP_958785.1:p.Arg1264Gly
  • NP_958786.1:p.Arg1260Gly
  • NC_000008.11:g.143927314G>C (GRCh38)
  • NC_000008.10:g.145001482G>C (GRCh37)
  • NM_000445.3:c.3859C>G
Links:
NCBI 1000 Genomes Browser:
rs151022876
Molecular consequence:
NM_000445.4:c.3859C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00319 (C)
  • 1000 Genomes Project 0.00319
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00180
  • The Genome Aggregation Database (gnomAD) 0.00230
  • The Genome Aggregation Database (gnomAD), exomes 0.00051
  • Trans-Omics for Precision Medicine (TOPMed) 0.00246

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
Benign
(Dec 28, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000337547.3
Likely benign
(Dec 9, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000526311.4
    Likely benign
    (Apr 11, 2017)
    criteria provided, single submitter
    clinical testinggermline
      Athena Diagnostics IncSCV000614624.1
      Likely benign
      (Dec 11, 2017)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000650260.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided10germlinenot providednot provided
        Athena Diagnostics Incnot providednot providedgermlinenot providednot providednot providednot provided
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided10germlinenot 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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