NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Apr 22, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
7 submissions [Details]
Record status:
current
Accession:
RCV000031272.7

Allele description

NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs)
Other names:
185_186insA
HGVS:
  • NC_000017.11:g.43124031dupT
  • NG_005905.2:g.93953dup
  • NM_007294.3:c.66dupA
  • NM_007297.3:c.-22dupA
  • NP_009225.1:p.Glu23Argfs
  • LRG_292t1:c.66dupA
  • LRG_292:g.93953dup
  • LRG_292p1:p.Glu23Argfs
  • NC_000017.10:g.41276047_41276048insT
  • NC_000017.10:g.41276048dupT
  • NG_005905.2:g.93953_93954insA
  • NG_005905.2:g.93953dupA
  • NM_007294.3:c.66_67insA
  • NM_007294.3:c.66dup
  • NR_027676.1:n.227dupA
  • U14680.1:n.185_186insA
  • p.E23Rfs*18
  • p.Glu23Argfs*18
Nucleotide change:
185insA
Links:
Breast Cancer Information Core (BIC) (BRCA1): 185&base_change=ins A; dbSNP: rs80357783
NCBI 1000 Genomes Browser:
rs80357783
Molecular consequence:
  • NM_007294.3:c.66dupA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
75

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053877Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Jul 17, 2013)
germlineclinical testing

SCV000144170Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(May 29, 2002)
germlineclinical testing

SCV000227401EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Sep 5, 2014)
germlineclinical testing

Citation Link,

SCV000282347Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Apr 22, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000326376Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000488962Counsylcriteria provided, single submitter
Pathogenic
(Jul 26, 2016)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV000564309Department of Medical Genetics,Oslo University Hospitalcriteria provided, single submitter
Pathogenic
(Jul 1, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providednot providedclinical testing
not providedgermlinenot provided7not providednot provided7not providedclinical testing
not providedgermlineunknown175not providednot providednot providedclinical testing, curation
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Ashkenazi Jewishgermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes13not providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Chinesegermlineyes1not providednot providednot providednot providedclinical testing
Native American, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes6not providednot providednot providednot providedclinical testing

Citations

PubMed

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

PubMed [citation]
PMID:
18627636
PMCID:
PMC2575532

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Br├╝ggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, et al.

Hum Mutat. 2006 Jul;27(7):654-66.

PubMed [citation]
PMID:
16683254
See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053877.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided7not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144170.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
2not provided3not providednot providedclinical testingnot provided
3not provided1not providednot providedclinical testingnot provided
4Ashkenazi Jewish1not providednot providedclinical testingnot provided
5Caucasian1not providednot providedclinical testingnot provided
6Caucasian11not providednot providedclinical testingnot provided
7Caucasian1not providednot providedclinical testingnot provided
8Central/Eastern European1not providednot providedclinical testingnot provided
9Chinese1not providednot providedclinical testingnot provided
10Native American, Central/Eastern European1not providednot providedclinical testingnot provided
11Western European6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided5not providednot providednot provided
2germlineyesnot providednot providednot provided3not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided
6germlineyesnot providednot providednot provided11not providednot providednot provided
7germlineyesnot providednot providednot provided1not providednot providednot provided
8germlineyesnot providednot providednot provided1not providednot providednot provided
9germlineyesnot providednot providednot provided1not providednot providednot provided
10germlineyesnot providednot providednot provided1not providednot providednot provided
11germlineyesnot providednot providednot provided6not providednot providednot provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000227401.3

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282347.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326376.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided75not provided

From Counsyl, SCV000488962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Medical Genetics,Oslo University Hospital, SCV000564309.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided12not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided12not providednot providednot provided

Last Updated: Oct 1, 2018