NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) AND Hereditary breast and ovarian cancer syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 2016
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:: RCV000167856.4

Allele description

NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter)

Other names:

p.E1308*:GAA>TAA

HGVS:

NC_000013.11:g.32338277G>T
NG_012772.3:g.27798G>T
NM_000059.3:c.3922G>T
NP_000050.2:p.Glu1308Ter
LRG_293t1:c.3922G>T
LRG_293:g.27798G>T
LRG_293p1:p.Glu1308Ter
NC_000013.10:g.32912414G>T
U43746.1:n.4150G>T
p.E1308*
p.Glu1308*

Nucleotide change:

4150G>T

Protein change:

E1308*

Links:

dbSNP: rs80358638

NCBI 1000 Genomes Browser:

rs80358638

Molecular consequence:

NM_000059.3:c.3922G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer
Identifiers:: MedGen: C0677776; Orphanet: 145
Prevalence:: http://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.ncbi.nlm.nih.gov/books/NBK1247

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000072325	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 27, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000072325

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 27, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Invitae, SCV000072325.6

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

Description

This sequence change creates a premature translational stop signal at codon 1308 (p.Glu1308*). It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in individuals with breast cancer (PMID: 12655567, 12955716, 23479189, 22682623) and an individual with Fanconi anemia (PMID: 14559878). It is also known as 4150G>T in the literature. For these reasons, this variant has been classified as Pathogenic.

#	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: Mar 25, 2017

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