NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 2022
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:: RCV000657153.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)]

NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)

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.2857GAG[1] (p.Glu954del)

HGVS:

NC_000013.11:g.32337212GAG[1]
NG_012772.3:g.26733GAG[1]
NM_000059.4:c.2857GAG[1]MANE SELECT
NP_000050.3:p.Glu954del
LRG_293t1:c.2860_2862del
LRG_293:g.26733GAG[1]
NC_000013.10:g.32911349GAG[1]
NC_000013.10:g.32911349_32911351del
NM_000059.3:c.2860_2862del
NM_000059.3:c.2860_2862delGAG
U43746.1:n.3088_3090delGAG

Protein change:

E954del

Links:

dbSNP: rs80359360

NCBI 1000 Genomes Browser:

rs80359360

Molecular consequence:

NM_000059.4:c.2857GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000573348	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 8, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000573348

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 8, 2022)

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, SCV000573348.9

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

Description

In-frame deletion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual from a family at high risk for Hereditary Breast and Ovarian Cancer syndrome who also harbored a pathogenic BRCA1 variant (Simard et al., 2007); In silico analysis supports a deleterious effect on protein structure/function; Also known as 3088_3090delGAG; This variant is associated with the following publications: (PMID: 23929434, 16905680)

#	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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