NM_000059.4(BRCA2):c.700del (p.Ser234fs) 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:: RCV000031661.19

Allele description [Variation Report for NM_000059.4(BRCA2):c.700del (p.Ser234fs)]

NM_000059.4(BRCA2):c.700del (p.Ser234fs)

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.700del (p.Ser234fs)

Other names:

924delT

HGVS:

NC_000013.11:g.32330937del
NG_012772.3:g.20458del
NM_000059.4:c.700delMANE SELECT
NP_000050.3:p.Ser234fs
LRG_293t1:c.700del
LRG_293:g.20458del
NC_000013.10:g.32905070del
NC_000013.10:g.32905074del
NM_000059.3:c.696delT
NM_000059.3:c.700delT
U43746.1:n.928delT
p.Ser234Profs*7

Nucleotide change:

928delT

Links:

Breast Cancer Information Core (BIC) (BRCA2): 924&base_change=del T; Breast Cancer Information Core (BIC) (BRCA2): 928&base_change=del T; dbSNP: rs80359630

NCBI 1000 Genomes Browser:

rs80359630

Molecular consequence:

NM_000059.4:c.700del - 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

Recent activity

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Homo sapiens fatty acid binding protein 12 (FABP12), transcript variant 1, mRNA
Homo sapiens fatty acid binding protein 12 (FABP12), transcript variant 1, mRNA
gi|2450651315|ref|NM_001105281.6|

Nucleotide
Homo sapiens fatty acid binding protein 12 (FABP12), transcript variant 2, non-c...
Homo sapiens fatty acid binding protein 12 (FABP12), transcript variant 2, non-coding RNA
gi|1070257842|ref|NR_144370.1|

Nucleotide
DQM35_RS09105 [Streptococcus pyogenes]
DQM35_RS09105 [Streptococcus pyogenes]
Gene ID:69901672

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054268	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Aug 16, 2011)	germline	clinical testing
SCV000147525	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000296691	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Mar 27, 2015)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11938448, 26467025, 26295337
SCV000300347	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,
SCV000327578	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	3	not provided	not provided	3	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	7	not provided	not provided	not provided	clinical testing, curation
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA mutations in Italian breast/ovarian cancer families.

Nedelcu R, Liede A, Aubé J, Finch A, Kwan E, Jack E, Narod SA, Randall S, Hugel L, Clark K.

Eur J Hum Genet. 2002 Feb;10(2):150-2. No abstract available.

PubMed [citation]

PMID:: 11938448

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054268.4

#	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	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147525.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296691.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300347.2

#	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, SCV000327578.4

#	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	7	not provided

Last Updated: Nov 3, 2024

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