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NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
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:
RCV001354029.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)]

NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)

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.3073A>G (p.Lys1025Glu)
Other names:
p.K1025E:AAG>GAG
HGVS:
  • NC_000013.11:g.32337428A>G
  • NG_012772.3:g.26949A>G
  • NM_000059.4:c.3073A>GMANE SELECT
  • NP_000050.2:p.Lys1025Glu
  • NP_000050.3:p.Lys1025Glu
  • LRG_293t1:c.3073A>G
  • LRG_293:g.26949A>G
  • LRG_293p1:p.Lys1025Glu
  • NC_000013.10:g.32911565A>G
  • NM_000059.3:c.3073A>G
  • U43746.1:n.3301A>G
  • p.K1025E
Nucleotide change:
3301A>G
Protein change:
K1025E
Links:
dbSNP: rs80358550
NCBI 1000 Genomes Browser:
rs80358550
Molecular consequence:
  • NM_000059.4:c.3073A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591847Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591847.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Lys1025Glu variant has been reported as a variant of unknown significance in the BIC (x5) and UMD (x2) databases. It has also been reported once in the literaure in a case report of male breast cancer in a patient receiving leuprolide therapy for prostate cancer (Yacoub_2007_17679929). It has not been previously identified by our laboratory. In addition, the variant is listed in the dbSNP database (ID#:rs80358550) as coming from a "clinical source" but no frequency information was provided, and so the prevalence of this variant in the population is not known. This residue is not conserved in mammals and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined at this time. This variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024