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NM_007294.4(BRCA1):c.2001dup (p.Leu668fs) AND Breast-ovarian cancer, familial 1

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Sep 8, 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:
RCV000083024.5

Allele description

NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
HGVS:
  • NC_000017.11:g.43093531dup
  • NG_005905.2:g.124454dup
  • NM_007294.4:c.2001dupMANE SELECT
  • NM_007297.4:c.1860dup
  • NM_007298.3:c.787+1213dup
  • NM_007299.4:c.787+1213dup
  • NM_007300.4:c.2001dup
  • NP_009225.1:p.Leu668fs
  • NP_009228.2:p.Leu621fs
  • NP_009231.2:p.Leu668fs
  • LRG_292:g.124454dup
  • NC_000017.10:g.41245548dup
  • NM_007294.3:c.2001dupA
  • NR_027676.2:n.2178dup
  • U14680.1:n.2120_2121insA
Nucleotide change:
2120insA
Protein change:
L621fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2120&base_change=ins A; dbSNP: rs80357521
NCBI 1000 Genomes Browser:
rs80357521
Molecular consequence:
  • NM_007294.4:c.2001dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2001dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1213dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1213dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2178dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115098Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(May 1, 2012) 		germlineclinical testing

SCV000144271Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(Feb 20, 2004) 		germlineclinical testing

SCV000299683Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325210Consortium 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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115098.3

#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), SCV000144271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299683.2

#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, SCV000325210.3

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

Last Updated: Jun 15, 2021