NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
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:: RCV002250802.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)]

NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)

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.2551_2555del (p.Phe851fs)

HGVS:

NC_000013.11:g.32336906_32336910del
NG_012772.3:g.26427_26431del
NM_000059.4:c.2551_2555delMANE SELECT
NP_000050.3:p.Phe851fs
LRG_293t1:c.2548_2552del
LRG_293:g.26427_26431del
NC_000013.10:g.32911043_32911047del
NM_000059.3:c.2548_2552del
NM_000059.3:c.2551_2555delTTCAA

Protein change:

F851fs

Links:

dbSNP: rs2137487619

NCBI 1000 Genomes Browser:

rs2137487619

Molecular consequence:

NM_000059.4:c.2551_2555del - 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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RecName: Full=WD repeat, SAM and U-box domain-containing protein 1
RecName: Full=WD repeat, SAM and U-box domain-containing protein 1
gi|81882834|sp|Q5FVN8.1|WSDU1_RAT

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002520770	Center for Precision Medicine, Meizhou People's Hospital	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002520770

Center for Precision Medicine, Meizhou People's Hospital

no assertion criteria provided

Pathogenic

germline

clinical testing

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 Center for Precision Medicine, Meizhou People's Hospital, SCV002520770.1

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

#	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 8, 2024

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