NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 6, 2017
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:: RCV000213917.2

Allele description

NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs)

HGVS:

NC_000013.11:g.32332434dupA
NG_012772.3:g.21955dup
NM_000059.3:c.956dupA
NP_000050.2:p.Asn319Lysfs
LRG_293t1:c.956dup
LRG_293:g.21955dup
LRG_293p1:p.Asn319Lysfs
NC_000013.10:g.32906571_32906572insA
NC_000013.10:g.32906571dupA
NG_012772.3:g.21955_21956insA
NM_000059.3:c.956_957insA
NM_000059.3:c.956dup
U43746.1:n.1184_1185insA
p.Asn319Lysfs*8
p.Asn319LysfsX8
p.N319KFS*8

Nucleotide change:

1184insA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 1184&base_change=ins A; dbSNP: rs80359770

NCBI 1000 Genomes Browser:

rs80359770

Molecular consequence:

NM_000059.3:c.956dupA - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Identifiers:: MedGen: CN517202

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
SCV000278836	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000278836

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 6, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278836.6

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

Description

This duplication of one nucleotide in BRCA2 is denoted c.956dupA at the cDNA level and p.Asn319LysfsX8 (N319KfsX8) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CAAAAA[A]TCTA. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 319, and creates a premature stop codon at position 8 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.956dupA, previously reported as 1179insA and 1184insA, has been observed patients with Hereditary Breast and Ovarian Cancer syndrome (Ozcelik 2003, Thirthagiri 2008). We consider this variant to be pathogenic.

#	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: Mar 31, 2019

ClinVar

Relating variation to medicine