NM_000059.4(BRCA2):c.231_252del (p.Pro78fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 21, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000778093.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.231_252del (p.Pro78fs)]

NM_000059.4(BRCA2):c.231_252del (p.Pro78fs)

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.231_252del (p.Pro78fs)

Other names:

P78Gfs

HGVS:

NC_000013.11:g.32319240_32319261del
NG_012772.3:g.8761_8782del
NG_017006.2:g.1103_1124del
NM_000059.4:c.231_252delMANE SELECT
NP_000050.2:p.Pro78fs
NP_000050.3:p.Pro78fs
LRG_293t1:c.231_252del
LRG_293:g.8761_8782del
LRG_293p1:p.Pro78fs
NC_000013.10:g.32893377_32893398del
NM_000059.3:c.231_252del

Protein change:

P78fs

Links:

dbSNP: rs1566215948

NCBI 1000 Genomes Browser:

rs1566215948

Molecular consequence:

NM_000059.4:c.231_252del - 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
SCV000914202	Academic Center for Education, Culture and Research, Motamed Cancer Institute	no assertion criteria provided	Pathogenic (May 21, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914202

Academic Center for Education, Culture and Research, Motamed Cancer Institute

no assertion criteria provided

Pathogenic
(May 21, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Academic Center for Education, Culture and Research, Motamed Cancer Institute, SCV000914202.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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

Last Updated: Sep 1, 2024

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