NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) AND Breast-ovarian cancer, familial 2

Clinical significance:Benign (Last evaluated: Aug 10, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112911.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)]

NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)

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.1354C>A (p.Leu452Ile)
HGVS:
  • NC_000013.11:g.32332832C>A
  • NG_012772.3:g.22353C>A
  • NM_000059.3:c.1354C>A
  • NM_000059.4:c.1354C>AMANE SELECT
  • NP_000050.2:p.Leu452Ile
  • NP_000050.3:p.Leu452Ile
  • LRG_293t1:c.1354C>A
  • LRG_293:g.22353C>A
  • LRG_293p1:p.Leu452Ile
  • NC_000013.10:g.32906969C>A
  • NM_000059.4:c.1354C>A
  • U43746.1:n.1582C>A
Nucleotide change:
1582C>A
Protein change:
L452I
Links:
dbSNP: rs80358424
NCBI 1000 Genomes Browser:
rs80358424
Molecular consequence:
  • NM_000059.3:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000145857Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

SCV000244420Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Aug 10, 2015)
germlinecuration

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

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000297503Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Nov 18, 2010)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Citations

PubMed

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, et al.

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.

PubMed [citation]
PMID:
24212087
PMCID:
PMC4351044

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0003

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

From Sharing Clinical Reports Project (SCRP), SCV000297503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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