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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gi|1720364941|ref|XM_006514601.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004228398	Department of Medical and Surgical Sciences, University of Bologna	no assertion criteria provided	Likely benign (Sep 1, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004228398

Department of Medical and Surgical Sciences, University of Bologna

no assertion criteria provided

Likely benign
(Sep 1, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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