U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 18, 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:
RCV000256936.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs)]

NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs)

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.7666_7667dup (p.Asn2556fs)
Other names:
7895insAA
HGVS:
  • NC_000013.11:g.32357790_32357791dup
  • NG_012772.3:g.47311_47312dup
  • NM_000059.4:c.7666_7667dupMANE SELECT
  • NM_000059.4:c.7666_7667dupAA
  • NP_000050.3:p.Asn2556fs
  • LRG_293:g.47311_47312dup
  • NC_000013.10:g.32931927_32931928dup
  • NM_000059.3:c.7666_7667dupAA
  • p.Apn2556fs
Protein change:
N2556fs
Links:
dbSNP: rs878853303
NCBI 1000 Genomes Browser:
rs878853303
Molecular consequence:
  • NM_000059.4:c.7666_7667dup - frameshift variant - [Sequence Ontology: SO:0001589]
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000324577Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Oct 18, 2016) 		germlinecuration

Citation Link,

SCV000327706Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided2not providednot providednot providedclinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000324577.2

#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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327706.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided2not provided

Last Updated: Nov 3, 2024