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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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004211885Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 9, 2024)
unknownclinical testing

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

SCV004812135Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 27, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Criteria applied: PVS1,PM5_STR

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024