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NM_000059.4(BRCA2):c.9875C>A (p.Pro3292Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2021
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:
RCV001019835.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.9875C>A (p.Pro3292Gln)]

NM_000059.4(BRCA2):c.9875C>A (p.Pro3292Gln)

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.9875C>A (p.Pro3292Gln)
HGVS:
  • NC_000013.11:g.32398388C>A
  • NG_012772.3:g.87909C>A
  • NM_000059.4:c.9875C>AMANE SELECT
  • NP_000050.3:p.Pro3292Gln
  • LRG_293t1:c.9875C>A
  • LRG_293:g.87909C>A
  • NC_000013.10:g.32972525C>A
  • NC_000013.10:g.32972525C>A
  • NM_000059.3:c.9875C>A
Protein change:
P3292Q
Links:
dbSNP: rs56121817
NCBI 1000 Genomes Browser:
rs56121817
Molecular consequence:
  • NM_000059.4:c.9875C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001181242Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 8, 2021)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PubMed [citation]
PMID:
23704879
PMCID:
PMC3660339

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Nicchia E, Greco C, De Rocco D, Pecile V, D'Eustacchio A, Cappelli E, Corti P, Marra N, Ramenghi U, Pillon M, Farruggia P, Dufour C, Pallavicini A, Torelli L, Savoia A.

Mol Genet Genomic Med. 2015 Nov;3(6):500-12. doi: 10.1002/mgg3.160.

PubMed [citation]
PMID:
26740942
PMCID:
PMC4694132
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV001181242.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The p.P3292Q variant (also known as c.9875C>A), located in coding exon 26 of the BRCA2 gene, results from a C to A substitution at nucleotide position 9875. The proline at codon 3292 is replaced by glutamine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024