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NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 2, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001310131.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)]

NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)
Other names:
6719del4
HGVS:
  • NC_000013.11:g.32340846_32340849del
  • NG_012772.3:g.30367_30370del
  • NM_000059.4:c.6491_6494delMANE SELECT
  • NP_000050.3:p.Gln2164fs
  • LRG_293:g.30367_30370del
  • NC_000013.10:g.32914983_32914986del
  • NC_000013.10:g.32914983_32914986delAGTT
  • NM_000059.3:c.6491_6494delAGTT
  • p.Gln2164fs
Links:
dbSNP: rs397507862
NCBI 1000 Genomes Browser:
rs397507862
Molecular consequence:
  • NM_000059.4:c.6491_6494del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001499679Department of Molecular Diagnostics, Institute of Oncology Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 2, 2020) 		germlineclinical testing

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

Help

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 Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499679.1

#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 3, 2024