NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 6, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000113108.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)]

NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
HGVS:
  • NC_000013.11:g.32337212GAG[1]
  • NG_012772.3:g.26733GAG[1]
  • NM_000059.4:c.2857GAG[1]MANE SELECT
  • NP_000050.3:p.Glu954del
  • LRG_293t1:c.2860_2862del
  • LRG_293:g.26733GAG[1]
  • NC_000013.10:g.32911349GAG[1]
  • NC_000013.10:g.32911349_32911351del
  • NM_000059.3:c.2860_2862del
  • NM_000059.3:c.2860_2862delGAG
  • U43746.1:n.3088_3090delGAG
Protein change:
E954del
Links:
dbSNP: rs80359360
NCBI 1000 Genomes Browser:
rs80359360
Molecular consequence:
  • NM_000059.4:c.2857GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV000146133Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Dec 23, 2003) 		germlineclinical testing

SCV000489209Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Sep 6, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146133.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000489209.2

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

Last Updated: Sep 29, 2024