NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 30, 2014
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:: RCV000031567.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)]

NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)

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.566A>G (p.Asp189Gly)

Other names:

E2571G

HGVS:

NC_000013.11:g.32326548A>G
NG_012772.3:g.16069A>G
NM_000059.4:c.566A>GMANE SELECT
NP_000050.2:p.Asp189Gly
NP_000050.3:p.Asp189Gly
LRG_293t1:c.566A>G
LRG_293:g.16069A>G
LRG_293p1:p.Asp189Gly
NC_000013.10:g.32900685A>G
NM_000059.3:c.566A>G

Nucleotide change:

794A>G

Protein change:

D189G

Links:

dbSNP: rs397507359

NCBI 1000 Genomes Browser:

rs397507359

Molecular consequence:

NM_000059.4:c.566A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054172	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Jul 15, 2011)	germline	clinical testing
SCV000223759	Pathway Genomics	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Oct 30, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054172

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Uncertain significance
(Jul 15, 2011)

germline

clinical testing

SCV000223759

Pathway Genomics

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 30, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054172.3

#	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	1	not provided	not provided		not provided	not provided	not provided	not provided

From Pathway Genomics, SCV000223759.1

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

#	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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