NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) AND Breast-ovarian cancer, familial 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Mar 30, 2010
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:: RCV000077467.4

Allele description

NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)

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.9285C>G (p.Asp3095Glu)

HGVS:

NC_000013.11:g.32394717C>G
NG_012772.3:g.84238C>G
NM_000059.3:c.9285C>G
NM_000059.4:c.9285C>GMANE SELECT
NP_000050.2:p.Asp3095Glu
NP_000050.3:p.Asp3095Glu
LRG_293t1:c.9285C>G
LRG_293:g.84238C>G
LRG_293p1:p.Asp3095Glu
NC_000013.10:g.32968854C>G
NM_000059.4:c.9285C>G
U43746.1:n.9513C>G

Nucleotide change:

9513C>G

Protein change:

D3095E

Links:

dbSNP: rs80359198

NCBI 1000 Genomes Browser:

rs80359198

Molecular consequence:

NM_000059.3:c.9285C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000059.4:c.9285C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109265	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Mar 30, 2010)	germline	clinical testing
SCV000147600	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109265

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(Mar 30, 2010)

germline

clinical testing

SCV000147600

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Uncertain significance
(May 29, 2002)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
Western European	germline	yes	9	not provided	not provided	not provided	not provided	clinical testing
Western European, Native American, Centr	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109265.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147600.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	Western European	9	not provided	not provided	clinical testing	not provided
3	Western European, Native American, Centr	1	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		9	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 23, 2021

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