NM_007294.3(BRCA1):c.81-11delT AND Breast-ovarian cancer, familial 1

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:
RCV000031280.6

Allele description [Variation Report for NM_007294.3(BRCA1):c.81-11delT]

NM_007294.3(BRCA1):c.81-11delT

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.81-11delT
HGVS:
  • NC_000017.11:g.43115790delA
  • NG_005905.2:g.102194delT
  • NM_007294.3:c.81-11delT
  • LRG_292t1:c.81-11delT
  • LRG_292:g.102194delT
  • NC_000017.10:g.41267807delA
  • NM_007294.3:c.81-11del
  • U14680.1:n.200-11delT
Nucleotide change:
IVS2-11delT
Links:
BRCA1-HCI: BRCA1_00132; Breast Cancer Information Core (BIC) (BRCA1): 200-11&base_change=del T; dbSNP: 273902788
NCBI 1000 Genomes Browser:
rs273902788
Allele Frequency:
NaN
Molecular consequence:
  • NM_007294.3:c.81-11delT - intron variant - [Sequence Ontology: SO:0001627]
Observations:
7

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MedGen: C2676676; Orphanet: 145; OMIM: 604370
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053885Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Nov 16, 2007)
germlineclinical testing

SCV000144216Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

SCV000244411Evidence-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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing
Mexicangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053885.3

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
2Caucasian1not providednot providedclinical testingnot provided
3Latin American, Caribbean1not providednot providedclinical testingnot provided
4Mexican1not providednot providedclinical testingnot provided
5Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244411.1

#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 = 0.0000462

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

Last Updated: May 8, 2017