NM_000059.4(BRCA2):c.4530del (p.Glu1511fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 2, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001310150.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)]

NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)

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.4530del (p.Glu1511fs)

Other names:

4758delC

HGVS:

NC_000013.11:g.32338885del
NG_012772.3:g.28406del
NM_000059.4:c.4530delMANE SELECT
NP_000050.2:p.Glu1511fs
NP_000050.3:p.Glu1511fs
LRG_293t1:c.4530del
LRG_293:g.28406del
LRG_293p1:p.Glu1511fs
NC_000013.10:g.32913022del
NM_000059.3:c.4530del
NM_000059.3:c.4530delC
p.Glu1511fs

Protein change:

E1511fs

Links:

dbSNP: rs886040537

NCBI 1000 Genomes Browser:

rs886040537

Molecular consequence:

NM_000059.4:c.4530del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

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response regulator transcription factor [Streptococcus agalactiae]
response regulator transcription factor [Streptococcus agalactiae]
gi|446931368|ref|WP_001008624.1|

Protein
DUF4365 domain-containing protein [Streptococcus agalactiae]
DUF4365 domain-containing protein [Streptococcus agalactiae]
gi|446283771|ref|WP_000361626.1|

Protein
N-terminal EF-hand calcium-binding protein 3 isoform X3 [Mus musculus]
N-terminal EF-hand calcium-binding protein 3 isoform X3 [Mus musculus]
gi|1907142078|ref|XP_036018309.1|

Protein
PREDICTED: Homo sapiens integrin subunit alpha M (ITGAM), transcript variant X5,...
PREDICTED: Homo sapiens integrin subunit alpha M (ITGAM), transcript variant X5, mRNA
gi|2462548900|ref|XM_054380271.1|

Nucleotide
Introduction - Evaluation of Technologies for Identifying Acute Cardiac Ischemia...
Introduction - Evaluation of Technologies for Identifying Acute Cardiac Ischemia in Emergency Departments

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001499728	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001499728

Department of Molecular Diagnostics, Institute of Oncology Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 2, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499728.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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