NM_000321.3(RB1):c.411A>T (p.Glu137Asp) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Aug 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000570544.2

Allele description [Variation Report for NM_000321.3(RB1):c.411A>T (p.Glu137Asp)]

NM_000321.3(RB1):c.411A>T (p.Glu137Asp)

Gene:
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
HGVS:
  • NC_000013.11:g.48345110A>T
  • NG_009009.1:g.46364A>T
  • NM_000321.3:c.411A>TMANE SELECT
  • NP_000312.2:p.Glu137Asp
  • NP_000312.2:p.Glu137Asp
  • LRG_517t1:c.411A>T
  • LRG_517:g.46364A>T
  • LRG_517p1:p.Glu137Asp
  • NC_000013.10:g.48919246A>T
  • NM_000321.2:c.411A>T
  • P06400:p.Glu137Asp
Protein change:
E137D
Links:
UniProtKB: P06400#VAR_005573; dbSNP: rs3092902
NCBI 1000 Genomes Browser:
rs3092902
Molecular consequence:
  • NM_000321.3:c.411A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000664578Ambry Geneticscriteria provided, single submitter
Likely benign
(Aug 27, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Conservation of the RB1 gene in human and primates.

Sivakumaran TA, Shen P, Wall DP, Do BH, Kucheria K, Oefner PJ.

Hum Mutat. 2005 Apr;25(4):396-409. Erratum in: Hum Mutat. 2005 May;25(5):501.

PubMed [citation]
PMID:
15776430

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000664578.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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