NM_000059.4(BRCA2):c.488_489del (p.Ser163fs) 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:: RCV000577233.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)]

NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)

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.488_489del (p.Ser163fs)

HGVS:

NC_000013.11:g.32326254_32326255del
NG_012772.3:g.15775_15776del
NM_000059.4:c.488_489delMANE SELECT
NM_000059.4:c.488_489delGT
NP_000050.3:p.Ser163fs
LRG_293:g.15775_15776del
NC_000013.10:g.32900391_32900392del
NM_000059.3:c.488_489delGT
p.(Ser163IlefsTer19)

Protein change:

S163fs

Links:

dbSNP: rs397507747

NCBI 1000 Genomes Browser:

rs397507747

Molecular consequence:

NM_000059.4:c.488_489del - 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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LPS-induced systemic inflammation is suppressed by the PDZ motif peptide of ZO-1...
LPS-induced systemic inflammation is suppressed by the PDZ motif peptide of ZO-1 via regulation of macrophage M1/M2 polarization
LPS-induced systemic inflammation is suppressed by the PDZ motif peptide of ZO-1 via regulation of macrophage M1/M2 polarization

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000678850	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

SCV000678850

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

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D, Rouleau E, Schultz I, Caputo S, Lefol C, Bièche I, Caron O, Noguès C, Limacher JM, Demange L, Lidereau R, Fricker JP, Abecassis J.

BMC Med Genet. 2011 Sep 22;12:121. doi: 10.1186/1471-2350-12-121.

PubMed [citation]

PMID:: 21939546
PMCID:: PMC3198910

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678850.1

#	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: Sep 29, 2024

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