NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs) AND Familial cancer of breast

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000577426.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)]

NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)

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.3531_3534del (p.Asp1177fs)

HGVS:

NC_000013.11:g.32337886_32337889del
NG_012772.3:g.27407_27410del
NM_000059.4:c.3531_3534delMANE SELECT
NM_000059.4:c.3531_3534delCAGC
NP_000050.3:p.Asp1177fs
LRG_293:g.27407_27410del
NC_000013.10:g.32912023_32912026del
NM_000059.3:c.3531_3534delCAGC
p.(Asp1177GlufsTer19)

Protein change:

D1177fs

Links:

dbSNP: rs397507673

NCBI 1000 Genomes Browser:

rs397507673

Molecular consequence:

NM_000059.4:c.3531_3534del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000678905	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678905

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K.

Clin Genet. 2007 Feb;71(2):165-70.

PubMed [citation]

PMID:: 17250666

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678905.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Nov 3, 2024

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