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NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp)

Variation ID: Help
8262
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 4, 2017
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp)

Allele ID:
23301
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
  • Chr8: 143924012 (on Assembly GRCh38)
  • Chr8: 144998180 (on Assembly GRCh37)
Protein change:
R2110W, R1941W, R1951W, R1959W, R1973W, R1977W, R2000W
HGVS:
  • NG_012492.1:g.57734C>T
  • NM_000445.4:c.5998C>T
  • NM_201378.3:c.5875C>T
  • NM_201379.2:c.5851C>T
  • NM_201380.3:c.6328C>T
  • NM_201381.2:c.5821C>T
  • NM_201382.3:c.5917C>T
  • NM_201383.2:c.5929C>T
  • NM_201384.2:c.5917C>T
  • NP_000436.2:p.Arg2000Trp
  • NP_958780.1:p.Arg1959Trp
  • NP_958781.1:p.Arg1951Trp
  • NP_958782.1:p.Arg2110Trp
  • NP_958783.1:p.Arg1941Trp
  • NP_958784.1:p.Arg1973Trp
  • NP_958785.1:p.Arg1977Trp
  • NP_958786.1:p.Arg1973Trp
  • NC_000008.11:g.143924012G>A (GRCh38)
  • NC_000008.10:g.144998180G>A (GRCh37)
  • NM_000445.3:c.5998C>T
  • NM_201378.2:c.5875C>T
  • NM_201379.1:c.5851C>T
  • NM_201380.2:c.6328C>T
  • NM_201381.1:c.5821C>T
  • NM_201382.2:c.5917C>T
  • NM_201383.1:c.5929C>T
  • NM_201384.1:c.5917C>T
  • Q15149:p.Arg2110Trp
Links:
NCBI 1000 Genomes Browser:
rs80338756
Molecular consequence:
NM_000445.4:c.5998C>T: missense variant [Sequence Ontology SO:0001583]

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
Pathogenic
(Oct 4, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000617259.1
    Pathogenic
    (Jan 1, 2002)
    no assertion criteria providedliterature onlygermlineOMIMSCV000028960.4
    Pathogenic
    (Feb 14, 2013)
    no assertion criteria providedliterature onlynot providedGeneReviewsSCV000041740.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe R2000W variant in the PLEC…Full description
    GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 9, 2018