NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 23, 2023
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:: RCV000768624.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)]

NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)

Other names:

2034insA; 2041_2042insA; p.Ile605AsnfsX11

HGVS:

NC_000013.11:g.32333291dup
NG_012772.3:g.22812dup
NM_000059.4:c.1813dupMANE SELECT
NP_000050.3:p.Ile605fs
LRG_293:g.22812dup
NC_000013.10:g.32907420_32907421insA
NC_000013.10:g.32907428dup
NM_000059.3:c.1806dupA
NM_000059.3:c.1813dupA
NM_000059.4:c.1813dupA
U43746.1:n.2034_2035insA
U43746.1:n.2041_2042insA
p.I605NFS*11
p.I605NfsX11
p.Ile605Asnfs*11

Nucleotide change:

2040insA

Protein change:

I605fs

Links:

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

NCBI 1000 Genomes Browser:

rs80359306

Molecular consequence:

NM_000059.4:c.1813dup - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000219309	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001451796	CZECANCA consortium	no assertion criteria provided	Pathogenic (Jun 11, 2019)	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

SCV000219309

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 23, 2023)

germline

clinical testing

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

SCV001451796

CZECANCA consortium

no assertion criteria provided

Pathogenic
(Jun 11, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Slavic	germline	yes	2	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

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]

PMID:: 32295079
PMCID:: PMC7226062

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000219309.7

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CZECANCA consortium, SCV001451796.1

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

Last Updated: Nov 3, 2024

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