NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 7, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001798046.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)]

NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)

HGVS:

NC_000013.11:g.32339706dup
NG_012772.3:g.29227dup
NM_000059.4:c.5351dupMANE SELECT
NM_000059.4:c.5351dupA
NP_000050.3:p.Asn1784fs
LRG_293t1:c.5351dup
LRG_293:g.29227dup
NC_000013.10:g.32913836_32913837insA
NC_000013.10:g.32913843dup
NM_000059.3:c.5351dup
NM_000059.3:c.5351dupA
NM_000059.4:c.5351dup
U43746.1:n.5579_5580insA
p.N1784KFS*3
p.N1784KfsX3

Nucleotide change:

5579insA

Protein change:

N1784fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 5579&base_change=ins A; dbSNP: rs80359507

NCBI 1000 Genomes Browser:

rs80359507

Molecular consequence:

NM_000059.4:c.5351dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002043179	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 7, 2021)	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

SCV002043179

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 7, 2021)

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	unknown	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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043179.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine