NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (4 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:: RCV000113484.18

Allele description [Variation Report for NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)]

NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)

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.5796_5797del (p.His1932fs)

Other names:

6024delTA; 6024_6025delTA

HGVS:

NC_000013.10:g.32914287_32914288del
NC_000013.11:g.32340151_32340152del
NG_012772.3:g.29672_29673del
NM_000059.4:c.5796_5797delMANE SELECT
NP_000050.3:p.His1932fs
LRG_293:g.29672_29673del
NC_000013.10:g.32914287_32914288del
NC_000013.10:g.32914288_32914289del
NC_000013.10:g.32914288_32914289delTA
NM_000059.3:c.5796_5797delTA
NM_000059.4:c.5796_5797del
U43746.1:n.6024_6025delTA
p.H1932Qfs*12
p.His1932Glnfs*12

Protein change:

H1932fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 6024&base_change=del TA; dbSNP: rs80359537

NCBI 1000 Genomes Browser:

rs80359537

Molecular consequence:

NM_000059.4:c.5796_5797del - 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
SCV000146701	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000282415	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,
SCV000327284	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,
SCV000489220	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Sep 13, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23096355, 11754111 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	35	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Southern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

Lara K, Consigliere N, Pérez J, Porco A.

Biol Res. 2012;45(2):117-30. doi: 10.4067/S0716-97602012000200003.

PubMed [citation]

PMID:: 23096355

BRCA2 gene mutations in Greek patients with familial breast cancer.

Armakolas A, Ladopoulou A, Konstantopoulou I, Pararas B, Gomatos IP, Kataki A, Konstadoulakis MM, Stathopoulos GP, Markopoulos C, Leandros E, Gogas I, Yannoukakos D, Androulakis G.

Hum Mutat. 2002 Jan;19(1):81-2.

PubMed [citation]

PMID:: 11754111

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146701.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	Caucasian	2	not provided	not provided	clinical testing	not provided
3	Southern European	1	not provided	not provided	clinical testing	not provided
4	Western European	3	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		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282415.1

#	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, SCV000327284.4

#	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	35	not provided

From Counsyl, SCV000489220.2

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

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

Last Updated: Jun 2, 2024

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