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NM_000059.4(BRCA2):c.2034_2038delTAATA AND Breast-ovarian cancer, familial 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 15, 2017
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:
RCV000238857.1

Allele description

NM_000059.4(BRCA2):c.2034_2038delTAATA

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.2034_2038delTAATA
HGVS:
  • NC_000013.11:g.32336389_32336393del
  • NG_012772.3:g.25910_25914del
  • NM_000059.3:c.2034_2038del
  • NM_000059.4:c.2034_2038delTAATAMANE SELECT
  • NP_000050.2:p.Asn679fs
  • LRG_293t1:c.2034_2038del
  • LRG_293:g.25910_25914del
  • LRG_293p1:p.Asn679fs
  • NC_000013.10:g.32910526_32910530del
  • NM_000059.3:c.2034_2038delTAATA
  • p.(Asn679SerfsTer7)
Nucleotide change:
2262del5
Protein change:
N679fs
Links:
dbSNP: rs879255440
NCBI 1000 Genomes Browser:
rs879255440
Molecular consequence:
  • NM_000059.3:c.2034_2038del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast 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
SCV000297418Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Aug 18, 2010) 		germlineclinical testing

SCV000783891Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Dec 15, 2017) 		germlinecuration

Citation Link

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Summary from all submissions

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

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000297418.1

#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) - ENIGMA, SCV000783891.1

#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 23, 2021