NM_000059.3(BRCA2):c.1813del (p.Ile605fs) AND Breast-ovarian cancer, familial 2

This record was updated by the submitter. Please see the current version.

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:: RCV000031344.11

Allele description

NM_000059.3(BRCA2):c.1813del (p.Ile605fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.1813del (p.Ile605fs)

Other names:

2034delA; 2041_2042delA

HGVS:

NC_000013.11:g.32333291del
NG_012772.3:g.22812del
LRG_293t1:c.1813del
LRG_293:g.22812del
LRG_293p1:p.Ile605fs
NC_000013.10:g.32907428del
NC_000013.10:g.32907428delA
NM_000059.3:c.1813delA
U43746.1:n.2034delA
U43746.1:n.2041delA
p.I605YFS*9
p.I605YfsX9
p.Ile605Tyrfs*9

Nucleotide change:

2041delA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 2034&base_change=del A; Breast Cancer Information Core (BIC) (BRCA2): 2041&base_change=del A; dbSNP: rs80359306

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast 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
SCV000053949	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Oct 22, 2012)	germline	clinical testing
SCV000145952	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, unknown	clinical testing
SCV000282362	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,
SCV000326618	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	not provided	14	not provided	not provided	14	not provided	clinical testing
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	43	not provided	not provided	not provided	clinical testing, curation
Caucasian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Irish, English, Scottish	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Thai, Chinese	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
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053949.6

#	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	14	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:5563G>A (V1779I)	1
1	SingleHeterozygote	BRCA2:1394C>A (P389Q)	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145952.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	Caucasian	1	not provided	not provided	clinical testing	not provided
5	Caucasian	1	not provided	not provided	clinical testing	not provided
6	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
7	Irish, English, Scottish	1	not provided	not provided	clinical testing	not provided
8	Native American	1	not provided	not provided	clinical testing	not provided
9	Thai, Chinese	1	not provided	not provided	clinical testing	not provided
10	Western European	3	not provided	not provided	clinical testing	not provided
11	Western Europeanan, Central/Eastern 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	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
11	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), SCV000282362.1

#	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, SCV000326618.3

#	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	43	not provided

Last Updated: Aug 6, 2020

ClinVar

Relating variation to medicine

NM_000059.3(BRCA2):c.1813del (p.Ile605fs) AND Breast-ovarian cancer, familial 2

Allele description

NM_000059.3(BRCA2):c.1813del (p.Ile605fs)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053949.6

Co-occurrences

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145952.2

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282362.1

Description

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326618.3