NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (5 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:: RCV000031392.17

Allele description [Variation Report for NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)]

NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)

HGVS:

NC_000013.11:g.32337312_32337313insG
NG_012772.3:g.26833_26834insG
NM_000059.4:c.2957_2958insGMANE SELECT
NP_000050.2:p.Asn986fs
NP_000050.3:p.Asn986fs
LRG_293t1:c.2957_2958insG
LRG_293:g.26833_26834insG
LRG_293p1:p.Asn986fs
NC_000013.10:g.32911449_32911450insG
NM_000059.3:c.2957_2958insG
U43746.1:n.3185_3186insG
p.Asn986Lysfs*2
p.N986KFS*2

Nucleotide change:

3185insG

Protein change:

N986fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3185&base_change=ins G; dbSNP: rs1555282969

NCBI 1000 Genomes Browser:

rs1555282969

Molecular consequence:

NM_000059.4:c.2957_2958insG - 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
SCV000053997	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Mar 24, 2011)	germline	clinical testing
SCV000146149	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Dec 23, 2003)	germline	clinical testing
SCV000300576	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,
SCV000326790	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,
SCV000677674	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (May 9, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] 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	unknown	not provided	4	not provided	not provided	not provided	clinical testing, curation
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, African	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.

Holter S, Borgida A, Dodd A, Grant R, Semotiuk K, Hedley D, Dhani N, Narod S, Akbari M, Moore M, Gallinger S.

J Clin Oncol. 2015 Oct 1;33(28):3124-9. doi: 10.1200/JCO.2014.59.7401. Epub 2015 May 4.

PubMed [citation]

PMID:: 25940717

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053997.4

#	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	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146149.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
2	Western European, African	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
2	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), SCV000300576.2

#	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, SCV000326790.4

#	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	4	not provided

From Counsyl, SCV000677674.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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