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NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 8, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000113247.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer)]

NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer)

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.3939del (p.Asn1312_Tyr1313insTer)
Other names:
4167delC
HGVS:
  • NC_000013.11:g.32338294del
  • NG_012772.3:g.27815del
  • NM_000059.4:c.3939delMANE SELECT
  • NM_000059.4:c.3939delC
  • NP_000050.3:p.Asn1312_Tyr1313insTer
  • LRG_293:g.27815del
  • NC_000013.10:g.32912431del
  • NM_000059.3:c.3939delC
  • U43746.1:n.4167delC
Links:
Breast Cancer Information Core (BIC) (BRCA2): 4167&base_change=del C; dbSNP: rs276174838
NCBI 1000 Genomes Browser:
rs276174838
Molecular consequence:
  • NM_000059.4:c.3939del - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146341Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Feb 23, 2007) 		germlineclinical testing

SCV000300688Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146341.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300688.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: Nov 10, 2024