NM_000059.4(BRCA2):c.2480dup (p.Asn827fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2021
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:: RCV000381040.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)]

NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)

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.2480dup (p.Asn827fs)

HGVS:

NC_000013.11:g.32336835dup
NG_012772.3:g.26356dup
NM_000059.4:c.2480dupMANE SELECT
NP_000050.2:p.Asn827fs
NP_000050.3:p.Asn827fs
LRG_293t1:c.2480dup
LRG_293:g.26356dup
LRG_293p1:p.Asn827fs
NC_000013.10:g.32910968_32910969insA
NC_000013.10:g.32910972dup
NM_000059.3:c.2480dup
NM_000059.3:c.2480dupA
p.N827KFS*3

Nucleotide change:

2708insA

Protein change:

N827fs

Links:

dbSNP: rs397507286

NCBI 1000 Genomes Browser:

rs397507286

Molecular consequence:

NM_000059.4:c.2480dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000329134	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329134

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 22, 2021)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000329134.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 27535533, 28152038)

#	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: Nov 10, 2024

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