NM_000059.4(BRCA2):c.7805+6C>G AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Apr 21, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000077412.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.7805+6C>G]

NM_000059.4(BRCA2):c.7805+6C>G

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.7805+6C>G

HGVS:

NC_000013.11:g.32357935C>G
NG_012772.3:g.47456C>G
NM_000059.4:c.7805+6C>GMANE SELECT
LRG_293t1:c.7805+6C>G
LRG_293:g.47456C>G
NC_000013.10:g.32932072C>G
NM_000059.3:c.7805+6C>G
NM_000059.4:c.7805+6C>G
U43746.1:n.8033+6C>G

Nucleotide change:

IVS16+6C>G

Links:

Breast Cancer Information Core (BIC) (BRCA2): 8033+6&base_change=C to G; dbSNP: rs81002819

NCBI 1000 Genomes Browser:

rs81002819

Molecular consequence:

NM_000059.4:c.7805+6C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000109210	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (May 1, 2012)	germline	clinical testing
SCV000147186	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000154087	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Mar 18, 2014)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 21394826, 18703817, 22476429 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000267810	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
African	germline	yes	7	not provided	not provided	not provided	not provided	clinical testing
African American	germline	yes	2	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	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.

PubMed [citation]

PMID:: 21394826
PMCID:: PMC4340479

The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL.

Cancer Res. 2008 Sep 1;68(17):7006-14. doi: 10.1158/0008-5472.CAN-08-0599. Epub 2008 Aug 14.

PubMed [citation]

PMID:: 18703817
PMCID:: PMC2752710

See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109210.5

#	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	2	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:4909C>A (H1561N)	1
1	SingleHeterozygote	BRCA2:6640G>T (V2138F)	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147186.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	African	7	not provided	not provided	clinical testing	not provided
4	African American	2	not provided	not provided	clinical testing	not provided
5	African, Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
6	Latin American, Caribbean	4	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		4	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided

From Counsyl, SCV000154087.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	literature only	PubMed (3)

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

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000267810.1

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

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

Last Updated: Sep 29, 2024

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