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NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs) 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:
RCV000113259.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)]

NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)
Other names:
4236ins4
HGVS:
  • NC_000013.11:g.32338363_32338364insCATC
  • NG_012772.3:g.27884_27885insCATC
  • NM_000059.4:c.4008_4009insCATCMANE SELECT
  • NP_000050.2:p.Asp1337fs
  • NP_000050.3:p.Asp1337fs
  • LRG_293t1:c.4008_4009insCATC
  • LRG_293:g.27884_27885insCATC
  • LRG_293p1:p.Asp1337fs
  • NC_000013.10:g.32912500_32912501insCATC
  • NM_000059.3:c.4008_4009insCATC
  • U43746.1:n.4236_4237insCATC
Protein change:
D1337fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 4236&base_change=ins CATC; dbSNP: rs80359420
NCBI 1000 Genomes Browser:
rs80359420
Molecular consequence:
  • NM_000059.4:c.4008_4009insCATC - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000146355Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenicunknownclinical testing

SCV000300697Evidence-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
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146355.2

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300697.2

#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: Sep 1, 2024