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NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 1, 2023
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:
RCV003483717.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)]

NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)

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.3854A>G (p.Glu1285Gly)
HGVS:
  • NC_000013.11:g.32338209A>G
  • NG_012772.3:g.27730A>G
  • NM_000059.4:c.3854A>GMANE SELECT
  • NP_000050.2:p.Glu1285Gly
  • NP_000050.3:p.Glu1285Gly
  • LRG_293t1:c.3854A>G
  • LRG_293:g.27730A>G
  • LRG_293p1:p.Glu1285Gly
  • NC_000013.10:g.32912346A>G
  • NM_000059.3:c.3854A>G
Protein change:
E1285G
Links:
dbSNP: rs747103920
NCBI 1000 Genomes Browser:
rs747103920
Molecular consequence:
  • NM_000059.4:c.3854A>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004228398Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Likely benign
(Sep 1, 2023)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228398.1

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

Description

PM2(Supporting)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

Last Updated: Sep 29, 2024