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NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 30, 2011
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:
RCV000113364.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)]

NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)

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.291_296del (p.Glu97_Leu98del)
Other names:
EL97del
HGVS:
  • NC_000013.11:g.32319300_32319305del
  • NG_012772.3:g.8821_8826del
  • NG_017006.2:g.1062_1067del
  • NM_000059.4:c.291_296delMANE SELECT
  • NP_000050.3:p.Glu97_Leu98del
  • LRG_293:g.8821_8826del
  • NC_000013.10:g.32893434_32893439del
  • NC_000013.10:g.32893437_32893442del
  • NM_000059.3:c.291_296delATTAGA
  • NM_000059.4:c.291_296del
  • U43746.1:n.519_524delATTAGA
  • p.E97_L98del
Nucleotide change:
519del6
Links:
Breast Cancer Information Core (BIC) (BRCA2): 519&base_change=del ATTAGA; dbSNP: rs80359362
NCBI 1000 Genomes Browser:
rs80359362
Molecular consequence:
  • NM_000059.4:c.291_296del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146517Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Feb 16, 2001) 		germlineclinical testing

SCV000297517Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Aug 30, 2011) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024