NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) AND Familial cancer of breast

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 27, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003473208.3

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:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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
SCV004211885	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 9, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004812135	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 27, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004211885

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 9, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004812135

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 27, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004211885.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004812135.1

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

Description

Criteria applied: PVS1,PM5_STR

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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