NM_000059.3(BRCA2):c.4409_4410del (p.Ile1470fs) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 22, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000564465.2

Allele description

NM_000059.3(BRCA2):c.4409_4410del (p.Ile1470fs)

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.4409_4410del (p.Ile1470fs)

Other names:

4637delTA

HGVS:

NC_000013.11:g.32338764_32338765del
NG_012772.3:g.28285_28286del
NM_000059.3:c.4409_4410del
NP_000050.2:p.Ile1470fs
LRG_293t1:c.4409_4410del
LRG_293t1:c.4409_4410del
LRG_293:g.28285_28286del
LRG_293p1:p.Ile1470fs
NC_000013.10:g.32912901_32912902del
NM_000059.3:c.4409_4410delTA
U43746.1:n.4637_4638delTA

Protein change:

I1470fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 4637&base_change=del TA; dbSNP: rs80359446

NCBI 1000 Genomes Browser:

rs80359446

Molecular consequence:

NM_000059.3:c.4409_4410del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MONDO: MONDO:0015356; MedGen: C0027672

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
SCV000668524	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Jan 26, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16683254, 17453335 Citation Link,
SCV000683618	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 22, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668524

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Jan 26, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000683618

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 22, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, et al.

Hum Mutat. 2006 Jul;27(7):654-66.

PubMed [citation]

PMID:: 16683254

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, Nikolopoulos G, Kamakari S, Nounesis G, Stylianakis A, Karanikiotis C, Razis E, Gogas H, Keramopoulos A, Gaki V, Markopoulos C, Skarlos D, Pandis N, Bei T, Arzimanoglou I, Fountzilas G, Yannoukakos D.

Breast Cancer Res Treat. 2008 Feb;107(3):431-41. Epub 2007 Apr 24.

PubMed [citation]

PMID:: 17453335

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000668524.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

From Color, SCV000683618.1

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

#	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: Jun 13, 2020

ClinVar

Relating variation to medicine