NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) AND not provided

Germline classification:: Pathogenic (1 submission)
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:: RCV001353966.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)]

NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)

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.2834_2835del (p.Lys945fs)

HGVS:

NC_000013.10:g.32911322_32911323del
NC_000013.11:g.32337189_32337190del
NG_012772.3:g.26710_26711del
NM_000059.4:c.2834_2835delMANE SELECT
NP_000050.3:p.Lys945fs
LRG_293:g.26710_26711del
NC_000013.10:g.32911322_32911323del
NC_000013.10:g.32911326_32911327del
NC_000013.10:g.32911326_32911327delAA
NC_000013.11:g.32337189_32337190delAA
NM_000059.3:c.2834_2835delAA
U43746.1:n.3062_3063delAA

Nucleotide change:

3062delAA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3062&base_change=del AA; dbSNP: rs80359356

NCBI 1000 Genomes Browser:

rs80359356

Molecular consequence:

NM_000059.4:c.2834_2835del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000591828	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000591828

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591828.2

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

Last Updated: Sep 29, 2024

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