NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 22, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000113278.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)]

NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)

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.4137_4141del (p.Ile1380fs)

Other names:

4365del5; 4365_4369delGATTA

HGVS:

NC_000013.11:g.32338492_32338496del
NG_012772.3:g.28013_28017del
NM_000059.4:c.4137_4141delMANE SELECT
NM_000059.4:c.4137_4141delGATTA
NP_000050.3:p.Ile1380fs
LRG_293:g.28013_28017del
NC_000013.10:g.32912628_32912632del
NC_000013.10:g.32912629_32912633del
NM_000059.3:c.4137_4141delGATTA
U43746.1:n.4365_4369delGATTA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 4365&base_change=del GATTA; dbSNP: rs80359431

NCBI 1000 Genomes Browser:

rs80359431

Molecular consequence:

NM_000059.4:c.4137_4141del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000146380	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Dec 23, 2003)	germline	clinical testing
SCV000282387	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000326978	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000146380

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Pathogenic
(Dec 23, 2003)

germline

clinical testing

SCV000282387

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Apr 22, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000326978

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)

Pathogenic
(Oct 2, 2015)

germline

clinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	2	not provided	not provided	not provided	clinical testing, curation

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146380.1

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

#	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		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282387.1

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326978.4

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

#	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	2	not provided

Last Updated: Oct 26, 2024

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