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NM_000059.4(BRCA2):c.468T>A (p.Asp156Glu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2020
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:
RCV003493647.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.468T>A (p.Asp156Glu)]

NM_000059.4(BRCA2):c.468T>A (p.Asp156Glu)

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.468T>A (p.Asp156Glu)
HGVS:
  • NC_000013.11:g.32326143T>A
  • NG_012772.3:g.15664T>A
  • NM_000059.4:c.468T>AMANE SELECT
  • NP_000050.2:p.Asp156Glu
  • NP_000050.3:p.Asp156Glu
  • LRG_293t1:c.468T>A
  • LRG_293:g.15664T>A
  • LRG_293p1:p.Asp156Glu
  • NC_000013.10:g.32900280T>A
  • NM_000059.3:c.468T>A
Protein change:
D156E
Links:
dbSNP: rs1197305103
NCBI 1000 Genomes Browser:
rs1197305103
Molecular consequence:
  • NM_000059.4:c.468T>A - missense variant - [Sequence Ontology: SO:0001583]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004243792BRCAlab, Lund University
no assertion criteria provided
Uncertain significance
(Mar 2, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From BRCAlab, Lund University, SCV004243792.1

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

Last Updated: Sep 1, 2024