NM_000059.4(BRCA2):c.8954-5_8954-2del AND BRCA2-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 11, 2023
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:: RCV004541051.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.8954-5_8954-2del]

NM_000059.4(BRCA2):c.8954-5_8954-2del

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.8954-5_8954-2del

HGVS:

NC_000013.11:g.32379745_32379748del
NG_012772.3:g.69266_69269del
NM_000059.3:c.8954-7_8954-4delCAAA
NM_000059.4:c.8954-5_8954-2delMANE SELECT
LRG_293t1:c.8954-5_8954-2del
LRG_293:g.69266_69269del
NC_000013.10:g.32953880_32953883del
NC_000013.10:g.32953882_32953885del
NM_000059.3:c.8954-5_8954-2del
NM_000059.3:c.8954-5_8954-2delAACA
NM_000059.3:c.8954-7_8954-4delCAAA
NM_000059.4:c.8954-5_8954-2del
NM_000059.4:c.8954-5_8954-2delAACAMANE SELECT

Nucleotide change:

IVS22-5del4

Links:

dbSNP: rs587782878

NCBI 1000 Genomes Browser:

rs587782878

Molecular consequence:

NM_000059.4:c.8954-5_8954-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: BRCA2-related disorder
Synonyms:: BRCA2-Related Disorders; BRCA2-related condition
Identifiers:: MedGen: CN239275

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004770388	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Sep 11, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004770388

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Sep 11, 2023)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004770388.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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

Last Updated: Oct 26, 2024

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