NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) AND BRCA2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 12, 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:: RCV004541046.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)]

NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)

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.7069_7070del (p.Leu2357fs)

Other names:

2357delCT; 7297_7298delCT

HGVS:

NC_000013.10:g.32929058_32929059del
NC_000013.11:g.32354922_32354923del
NG_012772.3:g.44443_44444del
NM_000059.4:c.7069_7070delMANE SELECT
NP_000050.3:p.Leu2357fs
LRG_293:g.44443_44444del
NC_000013.10:g.32929058_32929059del
NC_000013.10:g.32929059_32929060del
NC_000013.10:g.32929059_32929060del
NC_000013.10:g.32929059_32929060delCT
NM_000059.3:c.7069_7070delCT
NM_000059.4:c.7069_7070del
NM_000059.4:c.7069_7070delCT
U43746.1:n.7297_7298delCT
p.L2357VFS*2
p.L2357VfsX2
p.Leu2357Valfs*2
p.Leu2357ValfsX2
p.Leu2357fs

Nucleotide change:

7297delCT

Links:

Breast Cancer Information Core (BIC) (BRCA2): 7297&base_change=del CT; dbSNP: rs80359636

NCBI 1000 Genomes Browser:

rs80359636

Molecular consequence:

NM_000059.4:c.7069_7070del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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response regulator transcription factor [Streptococcus agalactiae]
response regulator transcription factor [Streptococcus agalactiae]
gi|446931368|ref|WP_001008624.1|

Protein
DUF4365 domain-containing protein [Streptococcus agalactiae]
DUF4365 domain-containing protein [Streptococcus agalactiae]
gi|446283771|ref|WP_000361626.1|

Protein
N-terminal EF-hand calcium-binding protein 3 isoform X3 [Mus musculus]
N-terminal EF-hand calcium-binding protein 3 isoform X3 [Mus musculus]
gi|1907142078|ref|XP_036018309.1|

Protein
PREDICTED: Homo sapiens integrin subunit alpha M (ITGAM), transcript variant X5,...
PREDICTED: Homo sapiens integrin subunit alpha M (ITGAM), transcript variant X5, mRNA
gi|2462548900|ref|XM_054380271.1|

Nucleotide
Introduction - Evaluation of Technologies for Identifying Acute Cardiac Ischemia...
Introduction - Evaluation of Technologies for Identifying Acute Cardiac Ischemia in Emergency Departments

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004762720	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Dec 12, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004762720

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Dec 12, 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, SCV004762720.2

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

Description

The BRCA2 c.7069_7070delCT variant is predicted to result in a frameshift and premature protein termination (p.Leu2357Valfs*2). This variant has been reported to be causative for hereditary cancer such as breast, ovarian, or colorectal cancers (reported as 7297delCT in Garvin et al. 1997. PubMed ID: 9429140; eTable 3, Pearlman et al. 2017. PubMed ID: 27978560; Table S3, Labidi-Galy et al. 2018. PubMed ID: 29084914; Heramb et al. 2018. PubMed ID: 29339979). This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/38082/). Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine