NM_000059.4(BRCA2):c.8633-26A>G AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000501105.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.8633-26A>G]

NM_000059.4(BRCA2):c.8633-26A>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.8633-26A>G
Other names:
IVS20-26A>G
HGVS:
  • NC_000013.11:g.32376644A>G
  • NG_012772.3:g.66165A>G
  • NM_000059.3:c.8633-26A>G
  • NM_000059.4:c.8633-26A>GMANE SELECT
  • LRG_293t1:c.8633-26A>G
  • LRG_293:g.66165A>G
  • NC_000013.10:g.32950781A>G
  • U43746.1:n.8861-26A>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8861-26&base_change=A to G; dbSNP: rs56268579
NCBI 1000 Genomes Browser:
rs56268579
Molecular consequence:
  • NM_000059.3:c.8633-26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.8633-26A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592216Department of Pathology and Laboratory Medicine,Sinai Health System - Canadian Open Genetics Repository (COGR)criteria provided, single submitter
Likely benign
(Oct 25, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Department of Pathology and Laboratory Medicine,Sinai Health System - Canadian Open Genetics Repository (COGR), SCV000592216.2

#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: Nov 10, 2021

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