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NM_000059.4(BRCA2):c.643del (p.Glu215fs) AND Malignant tumor of prostate

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001537640.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.643del (p.Glu215fs)]

NM_000059.4(BRCA2):c.643del (p.Glu215fs)

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.643del (p.Glu215fs)
HGVS:
  • NC_000013.11:g.32329454del
  • NG_012772.3:g.18975del
  • NM_000059.4:c.643delMANE SELECT
  • NP_000050.3:p.Glu215fs
  • LRG_293:g.18975del
  • NC_000013.10:g.32903591del
  • NM_000059.4:c.643delGMANE SELECT
Protein change:
E215fs
Links:
dbSNP: rs2137458206
NCBI 1000 Genomes Browser:
rs2137458206
Molecular consequence:
  • NM_000059.4:c.643del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001754566Anoual Laboratory of Radio-Immuno Analysis
no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccogermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Anoual Laboratory of Radio-Immuno Analysis, SCV001754566.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Morocco1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024