NM_007294.3(BRCA1):c.5152+85del AND Breast-ovarian cancer, familial 1

Clinical significance:Benign (Last evaluated: Jan 12, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112528.3

Allele description [Variation Report for NM_007294.3(BRCA1):c.5152+85del]

NM_007294.3(BRCA1):c.5152+85del

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.5152+85del
Other names:
IVS18+85delT; IVS 18+85del
HGVS:
  • NC_000017.11:g.43063793del
  • NG_005905.2:g.154195del
  • NM_007294.3:c.5152+85del
  • NM_007297.4:c.5011+85del
  • NM_007298.3:c.1840+85del
  • NM_007299.4:c.1840+85del
  • NM_007300.4:c.5215+85del
  • LRG_292t1:c.5152+85del
  • LRG_292:g.154195del
  • NC_000017.10:g.41215810del
  • NM_007294.3:c.5152+85delT
  • U14680.1:n.5271+85delT
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5271+85&base_change=del T; dbSNP: rs8176259
NCBI 1000 Genomes Browser:
rs8176259
Molecular consequence:
  • NM_007294.3:c.5152+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5011+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.1840+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1840+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5215+85del - intron variant - [Sequence Ontology: SO:0001627]
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
SCV000145350Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Dec 17, 2010)
germlineclinical testing

SCV000244610Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Jan 12, 2015)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000744595Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Sep 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not 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), SCV000244610.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1 (African), derived from 1000 genomes (2012-04-30).

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744595.1

#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 7, 2021

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