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NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 23, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000031468.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)]

NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
Other names:
p.E1397K:GAA>AAA
HGVS:
  • NC_000013.11:g.32338544G>A
  • NG_012772.3:g.28065G>A
  • NM_000059.4:c.4189G>AMANE SELECT
  • NP_000050.2:p.Glu1397Lys
  • NP_000050.3:p.Glu1397Lys
  • LRG_293t1:c.4189G>A
  • LRG_293:g.28065G>A
  • LRG_293p1:p.Glu1397Lys
  • NC_000013.10:g.32912681G>A
  • NM_000059.3:c.4189G>A
  • U43746.1:n.4417G>A
Nucleotide change:
4417G>A
Protein change:
E1397K
Links:
dbSNP: rs28897726
NCBI 1000 Genomes Browser:
rs28897726
Molecular consequence:
  • NM_000059.4:c.4189G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

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
SCV000054073Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Nov 23, 2009) 		germlineclinical testing

SCV000146390Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2not providednot provided2not providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054073.5

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

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA2:4391delCTinsA1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146390.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024