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NM_000445.4(PLEC):c.2925C>T (p.Pro975=)

Variation ID: Help
195801
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely benign(2);Uncertain significance(1)
Last evaluated:
Dec 13, 2017
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000445.4(PLEC):c.2925C>T (p.Pro975=)

Allele ID:
192962
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
  • Chr8: 143929725 (on Assembly GRCh38)
  • Chr8: 145003893 (on Assembly GRCh37)
HGVS:
  • NG_012492.1:g.52021C>T
  • NM_000445.4:c.2925C>T
  • NM_201378.3:c.2802C>T
  • NM_201379.2:c.2778C>T
  • NM_201380.3:c.3255C>T
  • NM_201381.2:c.2748C>T
  • NM_201382.3:c.2844C>T
  • NM_201383.2:c.2856C>T
  • NM_201384.2:c.2844C>T
  • NP_000436.2:p.Pro975=
  • NP_958780.1:p.Pro934=
  • NP_958781.1:p.Pro926=
  • NP_958782.1:p.Pro1085=
  • NP_958783.1:p.Pro916=
  • NP_958784.1:p.Pro948=
  • NP_958785.1:p.Pro952=
  • NP_958786.1:p.Pro948=
  • NC_000008.11:g.143929725G>A (GRCh38)
  • NC_000008.10:g.145003893G>A (GRCh37)
  • NM_000445.3:c.2925C>T
Links:
NCBI 1000 Genomes Browser:
rs200482255
Molecular consequence:
NM_000445.4:c.2925C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.00040 (A)
  • 1000 Genomes Project 0.00040
  • Exome Aggregation Consortium (ExAC) 0.00099
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00082
  • The Genome Aggregation Database (gnomAD) 0.00107
  • The Genome Aggregation Database (gnomAD), exomes 0.00092
  • Trans-Omics for Precision Medicine (TOPMed) 0.00098

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 8, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000337407.3
Likely benign
(Nov 27, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000650227.2
    Likely benign
    (Dec 13, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000718555.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided6germlinenot providednot provided
      EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided6germlinenot 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: Jun 17, 2019

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