NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (3 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:: RCV000031458.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs)]

NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs)

HGVS:

NC_000013.10:g.32912582_32912583del
NC_000013.11:g.32338445AT[1]
NG_012772.3:g.27966AT[1]
NM_000059.4:c.4092_4093delMANE SELECT
NP_000050.3:p.Ile1364fs
LRG_293t1:c.4092_4093del
LRG_293:g.27966AT[1]
NC_000013.10:g.32912582AT[1]
NC_000013.10:g.32912582_32912583del
NC_000013.10:g.32912584_32912585delAT
NM_000059.3:c.4092_4093del
NM_000059.3:c.4092_4093delAT
U43746.1:n.4320_4321delAT
p.I1364Mfs*3

Nucleotide change:

4320delAT

Protein change:

I1364fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 4320&base_change=del AT; dbSNP: rs80359426

NCBI 1000 Genomes Browser:

rs80359426

Molecular consequence:

NM_000059.4:c.4092_4093del - 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
SCV000054063	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Nov 17, 2011)	germline	clinical testing
SCV000146372	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Apr 12, 1999)	germline, somatic	clinical testing
SCV000300706	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054063

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(Nov 17, 2011)

germline

clinical testing

SCV000146372

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Pathogenic
(Apr 12, 1999)

germline, somatic

clinical testing

SCV000300706

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

Help

Summary from all submissions

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

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054063.4

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

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146372.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Western European	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	somatic	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), SCV000300706.2

#	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

Last Updated: Jun 2, 2024

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