NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) AND Breast and/or ovarian cancer

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2001
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:: RCV000735629.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)]

NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)

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.956A>C (p.Asn319Thr)

Other names:

p.N319T:AAT>ACT

HGVS:

NC_000013.11:g.32332434A>C
NG_012772.3:g.21955A>C
NM_000059.4:c.956A>CMANE SELECT
NP_000050.2:p.Asn319Thr
NP_000050.3:p.Asn319Thr
LRG_293t1:c.956A>C
LRG_293:g.21955A>C
LRG_293p1:p.Asn319Thr
NC_000013.10:g.32906571A>C
NM_000059.3:c.956A>C
U43746.1:n.1184A>C
p.N319T

Nucleotide change:

1184A>C

Protein change:

N319T

Links:

dbSNP: rs55939572

NCBI 1000 Genomes Browser:

rs55939572

Molecular consequence:

NM_000059.4:c.956A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000863767	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Uncertain significance (Dec 28, 2001)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863767

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

no assertion criteria provided

Uncertain significance
(Dec 28, 2001)

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), SCV000863767.1

#	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: Apr 15, 2024

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