NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) 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:
4 submissions [Details]
Record status:
current
Accession:
RCV000111784.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)]

NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)

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.2188_2201del (p.Glu730fs)
Other names:
2307del14; 2307_2320del14
HGVS:
  • NC_000017.11:g.43093337_43093350del
  • NG_005905.2:g.124641_124654del
  • NM_007294.4:c.2188_2201delMANE SELECT
  • NM_007297.4:c.2047_2060del
  • NM_007298.3:c.787+1401_787+1414del
  • NM_007299.4:c.787+1401_787+1414del
  • NM_007300.4:c.2188_2201del
  • NP_009225.1:p.Glu730fs
  • NP_009228.2:p.Glu683fs
  • NP_009231.2:p.Glu730fs
  • LRG_292:g.124641_124654del
  • NC_000017.10:g.41245347_41245360del
  • NC_000017.10:g.41245354_41245367del
  • NM_007294.3:c.2188_2201delGAAAAAGAAGAGAA
  • NR_027676.2:n.2365_2378del
  • U14680.1:n.2307_2320delGAAAAAGAAGAGAA
Protein change:
E683fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2307&base_change=del GAAAAAGAAGAGAA; dbSNP: rs273898681
NCBI 1000 Genomes Browser:
rs273898681
Molecular consequence:
  • NM_007294.4:c.2188_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2047_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2188_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1401_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1401_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2365_2378del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000144326Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(Dec 20, 2005)
germlineclinical testing

SCV000282274Evidence-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,

SCV000325277Consortium 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,

SCV000785409Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 25, 2017)
unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation
Asiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators., Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]
PMID:
21702907
PMCID:
PMC3146935

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144326.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not 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), SCV000282274.1

#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, SCV000325277.3

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

From Counsyl, SCV000785409.2

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

Last Updated: Aug 27, 2021

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