NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) 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:: RCV001310125.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)]

NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)

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.5722_5723del (p.Leu1908fs)

Other names:

5946delCT; 5950_5951delCT; p.Leu1908ArgfsTer2

HGVS:

NC_000013.10:g.32914210_32914211del
NC_000013.11:g.32340073CT[2]
NG_012772.3:g.29594CT[2]
NG_012772.3:g.29598_29599del
NM_000059.4:c.5722_5723delMANE SELECT
NP_000050.3:p.Leu1908fs
LRG_293:g.29594CT[2]
NC_000013.10:g.32914210CT[2]
NC_000013.10:g.32914210_32914211del
NC_000013.10:g.32914214_32914215delCT
NC_000013.11:g.32340077_32340078delCT
NG_012772.3:g.29598_29599del
NM_000059.3:c.5718_5719del
NM_000059.3:c.5722_5723delCT
NM_000059.4:c.5722_5723delCT
U43746.1:n.5950_5951delCT
p.L1908RFS*2
p.L1908RfsX2
p.Leu1908Argfs*2
p.Leu1908ArgfsX2

Nucleotide change:

5950delCT

Protein change:

L1908fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 5946&base_change=del CT; Breast Cancer Information Core (BIC) (BRCA2): 5950&base_change=del CT; OMIM: 600185.0004; dbSNP: rs80359530

NCBI 1000 Genomes Browser:

rs80359530

Molecular consequence:

NM_000059.4:c.5722_5723del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

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

Clear Turn Off Turn On

Mus musculus homeo box B1, mRNA (cDNA clone MGC:124121 IMAGE:40046066), complete...
Mus musculus homeo box B1, mRNA (cDNA clone MGC:124121 IMAGE:40046066), complete cds
gi|73695288|gb|BC103597.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001499673	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

SCV001499673

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, SCV001499673.1

#	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 13, 2024

ClinVar

Relating variation to medicine