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NM_000059.4(BRCA2):c.9793T>C (p.Cys3265Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000129557.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.9793T>C (p.Cys3265Arg)]

NM_000059.4(BRCA2):c.9793T>C (p.Cys3265Arg)

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.9793T>C (p.Cys3265Arg)
HGVS:
  • NC_000013.11:g.32398306T>C
  • NG_012772.3:g.87827T>C
  • NM_000059.4:c.9793T>CMANE SELECT
  • NP_000050.2:p.Cys3265Arg
  • NP_000050.3:p.Cys3265Arg
  • LRG_293t1:c.9793T>C
  • LRG_293:g.87827T>C
  • LRG_293p1:p.Cys3265Arg
  • NC_000013.10:g.32972443T>C
  • NM_000059.3:c.9793T>C
  • p.C3265R
Protein change:
C3265R
Links:
dbSNP: rs587781543
NCBI 1000 Genomes Browser:
rs587781543
Molecular consequence:
  • NM_000059.4:c.9793T>C - 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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000184338Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Jan 27, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000184338.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.C3265R variant (also known as c.9793T>C or 10021T>C), located in coding exon 26 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9793. The cysteine at codon 3265 is replaced by arginine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.C3265R remains unclear.

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

Last Updated: Sep 1, 2024