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NM_000059.4(BRCA2):c.7806-40A>G AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Benign (3 submissions)
Last evaluated:
Jul 7, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000113826.16

Allele description [Variation Report for NM_000059.4(BRCA2):c.7806-40A>G]

NM_000059.4(BRCA2):c.7806-40A>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.7806-40A>G
Other names:
IVS16-40A>G
HGVS:
  • NC_000013.11:g.32362483A>G
  • NG_012772.3:g.52004A>G
  • NM_000059.4:c.7806-40A>GMANE SELECT
  • LRG_293t1:c.7806-40A>G
  • LRG_293:g.52004A>G
  • NC_000013.10:g.32936620A>G
  • NM_000059.3:c.7806-40A>G
  • NM_000059.4:c.7806-40A>G
  • U43746.1:n.8034-40A>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8034-40&base_change=A to G; dbSNP: rs9590939
NCBI 1000 Genomes Browser:
rs9590939
Molecular consequence:
  • NM_000059.4:c.7806-40A>G - intron variant - [Sequence Ontology: SO:0001627]
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147194Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Jan 18, 2007)
germlineclinical testing

SCV000196009Michigan Medical Genetics Laboratories, University of Michigan
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Nov 3, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004016865KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 7, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147194.1

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

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000196009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodnot providednot providednot providednot providednot provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024