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NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Breast-ovarian cancer, familial 1

Germline classification:
Pathogenic (9 submissions)
Last evaluated:
Apr 22, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000019254.17

Allele description

NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
Other names:
3598del11; 3600_3610delGAAGATACTAG
HGVS:
  • NC_000017.11:g.43092042_43092052del
  • NG_005905.2:g.125934_125944del
  • NM_007294.4:c.3481_3491delMANE SELECT
  • NM_007297.4:c.3340_3350del
  • NM_007298.3:c.788-1018_788-1008del
  • NM_007299.4:c.788-1018_788-1008del
  • NM_007300.4:c.3481_3491del
  • NP_009225.1:p.Glu1161fs
  • NP_009228.2:p.Glu1114fs
  • NP_009231.2:p.Glu1161fs
  • LRG_292:g.125934_125944del
  • NC_000017.10:g.41244057_41244067delCTAGTATCTTC
  • NC_000017.10:g.41244059_41244069del
  • NM_007294.3:c.3481_3491delGAAGATACTAG
  • NR_027676.2:n.3658_3668del
  • U14680.1:c.3481_3491del
  • U14680.1:n.3600_3610delGAAGATACTAG
  • p.E1161FFS*3
  • p.E1161FfsX3
  • p.Glu1161Phefs*3
  • p.Glu1161PhefsX3
Nucleotide change:
3600del11
Protein change:
E1114fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3598&base_change=del AGGAAGATACT; Breast Cancer Information Core (BIC) (BRCA1): 3600&base_change=del GAAGATACTAG; OMIM: 113705.0025; dbSNP: rs80357877
NCBI 1000 Genomes Browser:
rs80357877
Molecular consequence:
  • NM_007294.4:c.3481_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3340_3350del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3481_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-1018_788-1008del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1018_788-1008del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.3658_3668del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
198

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:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039542OMIM
no assertion criteria provided
Pathogenic
(May 1, 1999)
germlineliterature only

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

SCV000053708Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(May 1, 2012)
germlineclinical testing

SCV000144774Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(May 29, 2002)
germlineclinical testing

SCV000189884Pathway Genomics
no assertion criteria provided
Pathogenic
(Jul 24, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000211998Division of Human Genetics,Medical University Innsbruck - BRCA-Tyrol
no assertion criteria provided

(clinical testing)
Pathogenic
(Feb 11, 2015)
germlineclinical testing

SCV000220697Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Pathogenic
(Sep 16, 2014)
unknownliterature only

PubMed (7)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV000282308Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))
Pathogenic
(Apr 22, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325665Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000744633DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)
Pathogenic
(Sep 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes29not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided198not providednot providednot providedclinical testing, curation
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot provided19not providednot provided19not providedliterature only, clinical testing
Caucasiangermlineyes4not providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes3not providednot providednot providednot providedclinical testing
Germangermlineyes5not providednot providednot providednot providedclinical testing
German, Irish, Welshgermlineyes1not providednot providednot providednot providedclinical testing
Native American, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes19not providednot providednot providednot providedclinical testing
Western European, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeanan, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.

Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, Tucker MA.

Am J Hum Genet. 1995 Jul;57(1):1-7.

PubMed [citation]
PMID:
7611277
PMCID:
PMC1801253

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, et al.

Hum Mutat. 2003 Oct;22(4):301-12.

PubMed [citation]
PMID:
12955716
See all PubMed Citations (7)

Details of each submission

From OMIM, SCV000039542.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Caucasian patient with a positive family history of breast or ovarian cancer (604370) in a first-degree relative, Janezic et al. (1999) identified a 3600del11 mutation in the BRCA1 gene.

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

From Sharing Clinical Reports Project (SCRP), SCV000053708.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided19not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided22not providednot providedclinical testingnot provided
2not provided2not providednot providedclinical testingnot provided
3not provided1not providednot providedclinical testingnot provided
4not provided1not providednot providedclinical testingnot provided
5not provided1not providednot providedclinical testingnot provided
6not provided1not providednot providedclinical testingnot provided
7not provided1not providednot providedclinical testingnot provided
8Caucasian1not providednot providedclinical testingnot provided
9Caucasian1not providednot providedclinical testingnot provided
10Caucasian2not providednot providedclinical testingnot provided
11Central/Eastern European3not providednot providedclinical testingnot provided
12German5not providednot providedclinical testingnot provided
13German, Irish, Welsh1not providednot providedclinical testingnot provided
14Native American, Central/Eastern European1not providednot providedclinical testingnot provided
15Western European19not providednot providedclinical testingnot provided
16Western European, Central/Eastern European1not providednot providedclinical testingnot provided
17Western Europeanan, Central/Eastern European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided22not providednot providednot provided
2germlineyesnot providednot providednot provided2not 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 provided1not 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 provided2not providednot providednot provided
11germlineyesnot providednot providednot provided3not providednot providednot provided
12germlineyesnot providednot providednot provided5not providednot providednot provided
13germlineyesnot providednot providednot provided1not providednot providednot provided
14germlineyesnot providednot providednot provided1not providednot providednot provided
15germlineyesnot providednot providednot provided19not providednot providednot provided
16germlineyesnot providednot providednot provided1not providednot providednot provided
17germlineyesnot providednot providednot provided1not providednot providednot provided

From Pathway Genomics, SCV000189884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Division of Human Genetics,Medical University Innsbruck - BRCA-Tyrol, SCV000211998.1

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

From Counsyl, SCV000220697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282308.1

#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, SCV000325665.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided198not provided

From DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share Consensus, SCV000744633.1

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

Last Updated: Sep 27, 2020