NM_000059.4(BRCA2):c.6007del (p.Glu2002_Ile2003insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 2018
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:: RCV001008041.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.6007del (p.Glu2002_Ile2003insTer)]

NM_000059.4(BRCA2):c.6007del (p.Glu2002_Ile2003insTer)

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.6007del (p.Glu2002_Ile2003insTer)

HGVS:

NC_000013.11:g.32340362del
NG_012772.3:g.29883del
NM_000059.4:c.6007delMANE SELECT
NP_000050.3:p.Glu2002_Ile2003insTer
LRG_293t1:c.6007del
LRG_293:g.29883del
NC_000013.10:g.32914497del
NC_000013.10:g.32914499del
NM_000059.3:c.6007delA

Links:

dbSNP: rs1593907194

NCBI 1000 Genomes Browser:

rs1593907194

Molecular consequence:

NM_000059.4:c.6007del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001167774	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167774

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 10, 2018)

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, SCV001167774.1

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

Description

This variant is denoted BRCA2 c.6007delA at the cDNA level and p.Ile2003Ter (I2003X) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 6235delA. The substitution creates a nonsense variant, which changes an Isoleucine to a premature stop codon (ATA>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered 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: Jul 15, 2024

ClinVar

Relating variation to medicine