NM_000059.4(BRCA2):c.4284del (p.Gln1429fs) 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:: RCV001310071.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)]

NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)

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.4284del (p.Gln1429fs)

HGVS:

NC_000013.11:g.32338639del
NG_012772.3:g.28160del
NM_000059.4:c.4284delMANE SELECT
NP_000050.3:p.Gln1429fs
LRG_293:g.28160del
NC_000013.10:g.32912776del
NM_000059.4:c.4284delTMANE SELECT

Protein change:

Q1429fs

Links:

dbSNP: rs80359439

NCBI 1000 Genomes Browser:

rs80359439

Molecular consequence:

NM_000059.4:c.4284del - 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
SCV001499594	Genomic Center, National Cancer Institute	no assertion criteria provided	Pathogenic	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001499594

Genomic Center, National Cancer Institute

no assertion criteria provided

Pathogenic

germline

case-control

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	case-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV001499594.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	whole blood and tissue	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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