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NM_000321.2(RB1):c.2134T>C (p.Cys712Arg)

Variation ID: Help
13092
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Mar 9, 2018
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000321.2(RB1):c.2134T>C (p.Cys712Arg)

Allele ID:
28131
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
  • Chr13: 48463758 (on Assembly GRCh38)
  • Chr13: 49037894 (on Assembly GRCh37)
Protein change:
C712R
HGVS:
  • NG_009009.1:g.165012T>C
  • NM_000321.2:c.2134T>C
  • NP_000312.2:p.Cys712Arg
  • NC_000013.11:g.48463758T>C (GRCh38)
  • LRG_517t1:c.2134T>C
  • NC_000013.10:g.49037894T>C (GRCh37)
  • P06400:p.Cys712Arg
  • LRG_517p1:p.Cys712Arg
  • LRG_517:g.165012T>C
Links:
NCBI 1000 Genomes Browser:
rs137853296
Molecular consequence:
NM_000321.2:c.2134T>C: 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
Likely pathogenic
(Mar 9, 2018)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germlineAmbry GeneticsSCV000580826.3
Pathogenic
(Oct 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000034215.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germlinenot providednot provided
Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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