NM_000059.4(BRCA2):c.1189C>T AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284072.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.1189C>T]

NM_000059.4(BRCA2):c.1189C>T

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.1189C>T
HGVS:
  • NC_000013.11:g.32332667C>T
  • NG_012772.3:g.22188C>T
  • NM_000059.3:c.1189C>T
  • NM_000059.4:c.1189C>TMANE SELECT
  • NP_000050.2:p.Gln397Ter
  • LRG_293t1:c.1189C>T
  • LRG_293:g.22188C>T
  • LRG_293p1:p.Gln397Ter
  • NC_000013.10:g.32906804C>T
Protein change:
Q397*
Links:
dbSNP: rs760815829
NCBI 1000 Genomes Browser:
rs760815829
Molecular consequence:
  • NM_000059.3:c.1189C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469658Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Jul 10, 2020)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, et al.

BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.

PubMed [citation]
PMID:
31159747
PMCID:
PMC6547505

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

Teixeira N, van der Hout A, Oosterwijk JC, Vos JR; HEBON., Devilee P, van Engelen K, Meijers-Heijboer H, van der Luijt RB, Kriege M, Mensenkamp AR, Rookus MA, van Roozendaal KE, Mourits MJE, de Bock GH.

Eur J Hum Genet. 2018 Jun;26(6):848-857. doi: 10.1038/s41431-018-0111-9. Epub 2018 Feb 26.

PubMed [citation]
PMID:
29483665
PMCID:
PMC5974362
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469658.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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