NM_000059.4(BRCA2):c.700del (p.Ser234fs) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 15, 2016
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:: RCV000735597.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.700del (p.Ser234fs)]

NM_000059.4(BRCA2):c.700del (p.Ser234fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.700del (p.Ser234fs)

Other names:

924delT

HGVS:

NC_000013.11:g.32330937del
NG_012772.3:g.20458del
NM_000059.4:c.700delMANE SELECT
NP_000050.3:p.Ser234fs
LRG_293t1:c.700del
LRG_293:g.20458del
NC_000013.10:g.32905070del
NC_000013.10:g.32905074del
NM_000059.3:c.696delT
NM_000059.3:c.700delT
U43746.1:n.928delT
p.Ser234Profs*7

Nucleotide change:

928delT

Links:

Breast Cancer Information Core (BIC) (BRCA2): 924&base_change=del T; Breast Cancer Information Core (BIC) (BRCA2): 928&base_change=del T; dbSNP: rs80359630

NCBI 1000 Genomes Browser:

rs80359630

Molecular consequence:

NM_000059.4:c.700del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000863735	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 15, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863735

Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 15, 2016)

germline

clinical testing

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

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863735.1

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

Last Updated: Nov 3, 2024

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