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NM_000321.2(RB1):c.1073G>A (p.Arg358Gln)

Variation ID: Help
410918
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 1, 2017
Number of submission(s):
1
Condition(s):
Retinoblastoma[MeSH - MedGen - Orphanet - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000321.2(RB1):c.1073G>A (p.Arg358Gln)

Allele ID:
399454
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
  • Chr13: 48368550 (on Assembly GRCh38)
  • Chr13: 48942686 (on Assembly GRCh37)
Protein change:
R358Q
HGVS:
  • NG_009009.1:g.69804G>A
  • NM_000321.2:c.1073G>A
  • NP_000312.2:p.Arg358Gln
  • NC_000013.11:g.48368550G>A (GRCh38)
  • LRG_517t1:c.1073G>A
  • NC_000013.10:g.48942686G>A (GRCh37)
  • LRG_517p1:p.Arg358Gln
  • LRG_517:g.69804G>A
Links:
NCBI 1000 Genomes Browser:
rs767011440
Molecular consequence:
NM_000321.2:c.1073G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00002
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00001

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
(Jun 1, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000551799.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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