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NM_000321.2(RB1):c.411A>T (p.Glu137Asp)

Variation ID: Help
41684
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000321.2(RB1):c.411A>T (p.Glu137Asp)

Allele ID:
50123
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
  • Chr13: 48345110 (on Assembly GRCh38)
  • Chr13: 48919246 (on Assembly GRCh37)
Protein change:
E137D
HGVS:
  • NG_009009.1:g.46364A>T
  • NM_000321.2:c.411A>T
  • NP_000312.2:p.Glu137Asp
  • NC_000013.11:g.48345110A>T (GRCh38)
  • LRG_517t1:c.411A>T
  • NC_000013.10:g.48919246A>T (GRCh37)
  • P06400:p.Glu137Asp
  • LRG_517p1:p.Glu137Asp
  • LRG_517:g.46364A>T
Links:
NCBI 1000 Genomes Browser:
rs3092902
Molecular consequence:
NM_000321.2:c.411A>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00042
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
  • The Genome Aggregation Database (gnomAD) 0.00052
  • The Genome Aggregation Database (gnomAD), exomes 0.00036
  • Trans-Omics for Precision Medicine (TOPMed) 0.00042

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 18, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000284626.4
    Uncertain significance
    (Feb 22, 2018)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germlineAmbry GeneticsSCV000664578.2
    Uncertain significance
    (Jul 13, 2012)
    no assertion criteria providedresearchgermlineBiesecker Lab/Human Development Section,National Institutes of Health - ClinSeqSCV000043463.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided2germlinenot providednot provided
    Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
    Biesecker Lab/Human Development Section,National Institutes of Healthnot provided1germlinenot providednot providednot providedConverted during submission to…Full description
    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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