NM_000059.3(BRCA2):c.2836delG (p.Asp946Ilefs) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2015
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:: RCV000480163.1

Allele description

NM_000059.3(BRCA2):c.2836delG (p.Asp946Ilefs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.2836delG (p.Asp946Ilefs)

Other names:

3064delG

HGVS:

NC_000013.11:g.32337191delG
NG_012772.3:g.26712delG
NM_000059.3:c.2836delG
NP_000050.2:p.Asp946Ilefs
LRG_293t1:c.2836delG
LRG_293:g.26712delG
LRG_293p1:p.Asp946Ilefs
NC_000013.10:g.32911328delG
NM_000059.3:c.2836del
U43746.1:n.3064delG

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3064&base_change=del G; dbSNP: rs80359358

NCBI 1000 Genomes Browser:

rs80359358

Molecular consequence:

NM_000059.3:c.2836delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567926	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 16, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567926

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 16, 2015)

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, SCV000567926.2

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

Description

This deletion of one nucleotide in BRCA2 is denoted c.2836delG at the cDNA level and p.Asp946IlefsX14 (D946IfsX14) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 3064delG. The normal sequence, with the base that is deleted in braces, is TAAAAAA[G]ATTT. The deletion causes a frameshift, which changes an Aspartic Acid to an Isoleucine at codon 946, and creates a premature stop codon at position 14 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. 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: Sep 26, 2017

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