NM_000059.4(BRCA2):c.2711_2714dup (p.Asn905fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 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:: RCV001824478.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.2711_2714dup (p.Asn905fs)]

NM_000059.4(BRCA2):c.2711_2714dup (p.Asn905fs)

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.2711_2714dup (p.Asn905fs)

HGVS:

NC_000013.11:g.32337066_32337069dup
NG_012772.3:g.26587_26590dup
NM_000059.4:c.2711_2714dupMANE SELECT
NP_000050.3:p.Asn905fs
LRG_293t1:c.2711_2714dup
LRG_293:g.26587_26590dup
NC_000013.10:g.32911202_32911203insGAAA
NC_000013.10:g.32911203_32911206dup
NM_000059.3:c.2711_2714dup

Protein change:

N905fs

Links:

dbSNP: rs2137489159

NCBI 1000 Genomes Browser:

rs2137489159

Molecular consequence:

NM_000059.4:c.2711_2714dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rattus norvegicus solute carrier family 22, member 18, mRNA (cDNA clone MGC:9418...
Rattus norvegicus solute carrier family 22, member 18, mRNA (cDNA clone MGC:94186 IMAGE:7129231), complete cds
gi|50926990|gb|BC079159.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002073956	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002073956

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 13, 2023)

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, SCV002073956.4

#	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; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2939_2942dup; This variant is associated with the following publications: (PMID: 20104584)

#	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: Sep 29, 2024

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