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NM_000059.4(BRCA2):c.4221del (p.Glu1407fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
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:
RCV000257472.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.4221del (p.Glu1407fs)]

NM_000059.4(BRCA2):c.4221del (p.Glu1407fs)

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.4221del (p.Glu1407fs)
Other names:
4449delA
HGVS:
  • NC_000013.11:g.32338576del
  • NG_012772.3:g.28097del
  • NM_000059.4:c.4221delMANE SELECT
  • NP_000050.3:p.Glu1407fs
  • LRG_293:g.28097del
  • NC_000013.10:g.32912713del
  • NC_000013.10:g.32912713delA
  • NM_000059.3:c.4221delA
  • p.Glu1407fs
Links:
dbSNP: rs886040515
NCBI 1000 Genomes Browser:
rs886040515
Molecular consequence:
  • NM_000059.4:c.4221del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000324226Evidence-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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000324226.2

#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