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NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs) 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:
RCV000031441.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)]

NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)
HGVS:
  • NC_000013.11:g.32338203dup
  • NG_012772.3:g.27724dup
  • NM_000059.4:c.3848dupMANE SELECT
  • NP_000050.3:p.Ser1284fs
  • LRG_293t1:c.3848dup
  • LRG_293:g.27724dup
  • NC_000013.10:g.32912339_32912340insT
  • NC_000013.10:g.32912340dup
  • NM_000059.3:c.3848dup
  • NM_000059.3:c.3848dupT
Nucleotide change:
4076insT
Protein change:
S1284fs
Links:
dbSNP: rs397507317
NCBI 1000 Genomes Browser:
rs397507317
Molecular consequence:
  • NM_000059.4:c.3848dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054046Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Apr 14, 2011) 		germlineclinical testing

SCV000300670Evidence-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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054046.4

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300670.2

#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 29, 2024