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NM_014139.2(SCN11A):c.3473T>C (p.Leu1158Pro)

Variation ID: Help
157599
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely benign(1);Pathogenic(1);Uncertain significance(1)
Last evaluated:
Dec 19, 2017
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_014139.2(SCN11A):c.3473T>C (p.Leu1158Pro)

Allele ID:
167460
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
  • Chr3: 38872215 (on Assembly GRCh38)
  • Chr3: 38913706 (on Assembly GRCh37)
Protein change:
L1158P
HGVS:
  • NG_033859.2:g.184772T>C
  • NM_001349253.1:c.3473T>C
  • NM_014139.2:c.3473T>C
  • NP_001336182.1:p.Leu1158Pro
  • NP_054858.2:p.Leu1158Pro
  • NC_000003.12:g.38872215A>G (GRCh38)
  • NC_000003.11:g.38913706A>G (GRCh37)
  • Q9UI33:p.Leu1158Pro
Links:
NCBI 1000 Genomes Browser:
rs141686175
Molecular consequence:
NM_001349253.1:c.3473T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (G)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00053
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
  • The Genome Aggregation Database (gnomAD) 0.00087
  • The Genome Aggregation Database (gnomAD), exomes 0.00044
  • Trans-Omics for Precision Medicine (TOPMed) 0.00021

1 Affected gene

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
(Apr 21, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000341201.4
Likely benign
(Dec 19, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000773761.1
    Pathogenic
    (Jun 1, 2014)
    no assertion criteria providedliterature onlygermlineOMIMSCV000191930.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germlinenot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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