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NM_000059.4(BRCA2):c.8633-36C>G AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2016
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:
RCV003477135.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8633-36C>G]

NM_000059.4(BRCA2):c.8633-36C>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.8633-36C>G
HGVS:
  • NC_000013.11:g.32376634C>G
  • NG_012772.3:g.66155C>G
  • NM_000059.4:c.8633-36C>GMANE SELECT
  • NM_001406719.1:c.8537-36C>G
  • NM_001406720.1:c.8633-36C>G
  • NM_001406721.1:c.3701-36C>G
  • NM_001406722.1:c.2216-36C>G
  • LRG_293t1:c.8633-36C>G
  • LRG_293:g.66155C>G
  • NC_000013.10:g.32950771C>G
  • NM_000059.3:c.8633-36C>G
Molecular consequence:
  • NM_000059.4:c.8633-36C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406719.1:c.8537-36C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406720.1:c.8633-36C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406721.1:c.3701-36C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.2216-36C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004220619Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(May 28, 2016) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.

Gao Q, Adebamowo CA, Fackenthal J, Das S, Sveen L, Falusi AG, Olopade OI.

Hum Genet. 2000 Aug;107(2):192-4. No abstract available.

PubMed [citation]
PMID:
11030418

Breast cancer genetics in African Americans.

Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C.

Cancer. 2003 Jan 1;97(1 Suppl):236-45. Review.

PubMed [citation]
PMID:
12491487
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024