NM_000059.4(BRCA2):c.3915del (p.Phe1305fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 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:: RCV000162054.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)]

NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)

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.3915del (p.Phe1305fs)

HGVS:

NC_000013.10:g.32912404del
NC_000013.11:g.32338270del
NG_012772.3:g.27791del
NM_000059.4:c.3915delMANE SELECT
NM_000059.4:c.3915delT
NP_000050.3:p.Phe1305fs
LRG_293:g.27791del
NC_000013.10:g.32912404del
NC_000013.10:g.32912407del
NC_000013.10:g.32912407delT
NM_000059.3:c.3915delT
NM_000059.4:c.3915del
p.Phe1305Leufs*30

Nucleotide change:

4143delT

Links:

dbSNP: rs397507698

NCBI 1000 Genomes Browser:

rs397507698

Molecular consequence:

NM_000059.4:c.3915del - 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
SCV000212019	Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol	no assertion criteria provided (clinical testing)	Pathogenic (Feb 11, 2015)	germline	clinical testing
SCV000297523	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Jul 2, 2012)	germline	clinical testing
SCV000300683	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000326938	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

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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
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	12	not provided	not provided	not provided	clinical testing, curation

Details of each submission

From Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol, SCV000212019.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sharing Clinical Reports Project (SCRP), SCV000297523.1

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300683.2

#	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, SCV000326938.4

#	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	12	not provided

Last Updated: Aug 18, 2024

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Relating variation to medicine

NM_000059.4(BRCA2):c.3915del (p.Phe1305fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)]

NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol, SCV000212019.1

From Sharing Clinical Reports Project (SCRP), SCV000297523.1

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300683.2

Description

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326938.4