NM_000059.4(BRCA2):c.67+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (3 submissions)
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:: RCV000077381.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+1G>A]

NM_000059.4(BRCA2):c.67+1G>A

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.67+1G>A

HGVS:

NC_000013.11:g.32316528G>A
NG_012772.3:g.6049G>A
NG_017006.2:g.3836C>T
NM_000059.4:c.67+1G>AMANE SELECT
NM_001406719.1:c.67+1G>A
NM_001406720.1:c.67+1G>A
NM_001406721.1:c.67+1G>A
NM_001406722.1:c.-303+861G>A
LRG_293t1:c.67+1G>A
LRG_293:g.6049G>A
NC_000013.10:g.32890665G>A
NM_000059.3:c.67+1G>A
U43746.1:n.295+1G>A

Nucleotide change:

IVS2+1G>A

Links:

Breast Cancer Information Core (BIC) (BRCA2): 295+1&base_change=G to A; dbSNP: rs81002796

NCBI 1000 Genomes Browser:

rs81002796

Molecular consequence:

NM_001406722.1:c.-303+861G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000059.4:c.67+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.67+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.67+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.67+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109178	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Nov 25, 2008)	germline	clinical testing
SCV000146093	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Jun 21, 1999)	germline	clinical testing
SCV000327501	Consortium 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)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109178

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(Nov 25, 2008)

germline

clinical testing

SCV000146093

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Pathogenic
(Jun 21, 1999)

germline

clinical testing

SCV000327501

Consortium 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)

germline

clinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	15	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109178.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146093.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327501.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	15	not provided

Last Updated: Jun 2, 2024

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