NM_007294.4(BRCA1):c.*873del AND Breast-ovarian cancer, familial 1

Clinical significance:Benign (Last evaluated: Sep 28, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255560.1

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:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321162Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Sep 28, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000321162.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.5358 (European), 0.4924 (African), 0.464 (Admixed American/Latino), 0.4583 (East Asian), 0.5521 (South Asian), derived from 1000 genomes (2013-05-02).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2021

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