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NM_000059.4(BRCA2):c.7436-1G>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000258487.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.7436-1G>C]

NM_000059.4(BRCA2):c.7436-1G>C

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.7436-1G>C
HGVS:
  • NC_000013.11:g.32356427G>C
  • NG_012772.3:g.45948G>C
  • NM_000059.4:c.7436-1G>CMANE SELECT
  • NM_001406719.1:c.7340-1G>C
  • NM_001406720.1:c.7436-1G>C
  • NM_001406721.1:c.2504-1G>C
  • NM_001406722.1:c.1019-1G>C
  • LRG_293t1:c.7436-1G>C
  • LRG_293:g.45948G>C
  • NC_000013.10:g.32930564G>C
  • NM_000059.3:c.7436-1G>C
Links:
dbSNP: rs886040939
NCBI 1000 Genomes Browser:
rs886040939
Molecular consequence:
  • NM_000059.4:c.7436-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.7340-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406720.1:c.7436-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.2504-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.1019-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000327660Consortium 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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327660.4

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

Last Updated: Sep 1, 2024