NM_000059.4(BRCA2):c.425+33A>G AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001723787.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.425+33A>G]

NM_000059.4(BRCA2):c.425+33A>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.425+33A>G
HGVS:
  • NC_000013.11:g.32325217A>G
  • NG_012772.3:g.14738A>G
  • NM_000059.4:c.425+33A>GMANE SELECT
  • LRG_293t1:c.425+33A>G
  • LRG_293:g.14738A>G
  • NC_000013.10:g.32899354A>G
  • NM_000059.3:c.425+33A>G
Links:
dbSNP: rs200065709
NCBI 1000 Genomes Browser:
rs200065709
Molecular consequence:
  • NM_000059.4:c.425+33A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001951806Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001951806.1

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

Last Updated: Nov 27, 2021

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