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NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2024
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:
RCV004027313.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu)]

NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu)

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.194C>T (p.Pro65Leu)
HGVS:
  • NC_000013.11:g.32319203C>T
  • NG_012772.3:g.8724C>T
  • NG_017006.2:g.1161G>A
  • NM_000059.4:c.194C>TMANE SELECT
  • NP_000050.2:p.Pro65Leu
  • NP_000050.3:p.Pro65Leu
  • LRG_293t1:c.194C>T
  • LRG_293:g.8724C>T
  • LRG_293p1:p.Pro65Leu
  • NC_000013.10:g.32893340C>T
  • NM_000059.3:c.194C>T
Protein change:
P65L
Links:
dbSNP: rs1566215861
NCBI 1000 Genomes Browser:
rs1566215861
Molecular consequence:
  • NM_000059.4:c.194C>T - 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

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV005024912Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Uncertain significance
    (Jan 10, 2024)     		germlineclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Citation Link

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Carboplatin plus taxanes are non-inferior to epirubicin plus cyclophosphamide followed by taxanes as adjuvant chemotherapy for early triple-negative breast cancer.

    Du F, Wang W, Wang Y, Li M, Zhu A, Wang J, Cai R, Ma F, Fan Y, Li Q, Zhang P, Todorovic V, Yuan P, Xu B.

    Breast Cancer Res Treat. 2020 Jul;182(1):67-77. doi: 10.1007/s10549-020-05648-9. Epub 2020 May 11.

    PubMed [citation]
    PMID:
    32394350

    Details of each submission

    From Ambry Genetics, SCV005024912.1

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

    Description

    The p.P65L variant (also known as c.194C>T), located in coding exon 2 of the BRCA2 gene, results from a C to T substitution at nucleotide position 194. The proline at codon 65 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly 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 1, 2024