NM_007294.3(BRCA1):c.5152+2dupT AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000083060.4

Allele description [Variation Report for NM_007294.3(BRCA1):c.5152+2dupT]

NM_007294.3(BRCA1):c.5152+2dupT

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.5152+2dupT
HGVS:
  • NC_000017.11:g.43063872dup
  • NG_005905.2:g.154112dup
  • NM_007294.3:c.5152+2dup
  • NM_007297.4:c.5011+2dup
  • NM_007298.3:c.1840+2dup
  • NM_007299.4:c.1840+2dup
  • NM_007300.4:c.5215+2dup
  • LRG_292t1:c.5152+2dup
  • LRG_292:g.154112dup
  • NC_000017.10:g.41215889dup
  • NM_007294.3:c.5152+2dupT
Nucleotide change:
IVS18+2insT
Links:
dbSNP: rs397509231
NCBI 1000 Genomes Browser:
rs397509231
Molecular consequence:
  • NM_007294.3:c.5152+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.5011+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.1840+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1840+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5215+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
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
SCV000115134Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely pathogenic
(May 1, 2012)
germlineclinical testing

SCV000326175Consortium 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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115134.3

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326175.3

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

Last Updated: Apr 18, 2021

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