NM_007294.4(BRCA1):c.*873del AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000363639.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.*873del]

NM_007294.4(BRCA1):c.*873del

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.*873del
HGVS:
  • NC_000017.11:g.43044823del
  • NG_005905.2:g.173179del
  • NM_007294.3:c.*873del
  • NM_007294.4:c.*873delMANE SELECT
  • NM_007297.4:c.*873del
  • NM_007298.3:c.*873del
  • NM_007299.4:c.*979del
  • NM_007300.4:c.*873del
  • LRG_292t1:c.*873del
  • LRG_292:g.173179del
  • NC_000017.10:g.41196840del
  • NM_007294.3:c.*873delA
  • NR_027676.2:n.6642del
Links:
dbSNP: rs59541324
NCBI 1000 Genomes Browser:
rs59541324
Molecular consequence:
  • NM_007294.3:c.*873del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007294.4:c.*873del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007297.4:c.*873del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007298.3:c.*873del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007299.4:c.*979del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007300.4:c.*873del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_027676.2:n.6642del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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
SCV000403037Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000403039Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000403037.2

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

From Illumina Clinical Services Laboratory,Illumina, SCV000403039.2

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

Last Updated: Apr 18, 2021

Support Center