NM_007294.3(BRCA1):c.5152+85del 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:
RCV000500180.1

Allele description [Variation Report for NM_007294.3(BRCA1):c.5152+85del]

NM_007294.3(BRCA1):c.5152+85del

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5152+85del
Other names:
IVS18+85delT; IVS 18+85del
HGVS:
  • NC_000017.11:g.43063793del
  • NG_005905.2:g.154195del
  • NM_007294.3:c.5152+85del
  • NM_007297.4:c.5011+85del
  • NM_007298.3:c.1840+85del
  • NM_007299.4:c.1840+85del
  • NM_007300.4:c.5215+85del
  • LRG_292t1:c.5152+85del
  • LRG_292:g.154195del
  • NC_000017.10:g.41215810del
  • NM_007294.3:c.5152+85delT
  • U14680.1:n.5271+85delT
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5271+85&base_change=del T; dbSNP: rs8176259
NCBI 1000 Genomes Browser:
rs8176259
Molecular consequence:
  • NM_007294.3:c.5152+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5011+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.1840+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1840+85del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5215+85del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000591586Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedLikely benignunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591586.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 6, 2021

Support Center