NM_000059.4(BRCA2):c.-15A>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Sep 24, 2009
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000031295.16

Allele description [Variation Report for NM_000059.4(BRCA2):c.-15A>C]

NM_000059.4(BRCA2):c.-15A>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.-15A>C

Other names:

214A>C

HGVS:

NC_000013.11:g.32316446A>C
NG_012772.3:g.5967A>C
NG_017006.2:g.3918T>G
NM_000059.4:c.-15A>CMANE SELECT
LRG_293t1:c.-15A>C
LRG_293:g.5967A>C
NC_000013.10:g.32890583A>C
NG_017006.1:g.509T>G
NM_000059.3:c.-15A>C
NM_000059.4:c.-15A>C
U43746.1:n.214A>C

Nucleotide change:

5'UTR214A>C

Links:

Breast Cancer Information Core (BIC) (BRCA2): 214&base_change=A to C; dbSNP: rs138705202

NCBI 1000 Genomes Browser:

rs138705202

Molecular consequence:

NM_000059.4:c.-15A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000053900	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Sep 24, 2009)	germline	clinical testing
SCV000145978	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053900

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Benign
(Sep 24, 2009)

germline

clinical testing

SCV000145978

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Uncertain significance
(Feb 20, 2004)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
African	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing
African American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
African, Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053900.4

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145978.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	African	6	not provided	not provided	clinical testing	not provided
3	African American	1	not provided	not provided	clinical testing	not provided
4	African, Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
5	Latin American, Caribbean	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		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		6	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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