NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) AND Hepatoblastoma

Germline classification:: Uncertain significance (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:: RCV001843463.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)]

NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)

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.3858_3860del (p.Lys1286del)

Other names:

K1286del; NP_000050.3:p.Lys1286del

HGVS:

NC_000013.10:g.32912346_32912348del
NC_000013.11:g.32338213_32338215del
NG_012772.3:g.27734_27736del
NM_000059.4:c.3858_3860delMANE SELECT
NM_000059.4:c.3858_3860delAAA
NP_000050.3:p.Lys1286del
LRG_293:g.27734_27736del
NC_000013.10:g.32912346_32912348del
NC_000013.10:g.32912346_32912348delAAA
NC_000013.10:g.32912350_32912352del
NC_000013.10:g.32912350_32912352del
NM_000059.3:c.3858_3860delAAA
NM_000059.4:c.3858_3860del
U43746.1:n.4086_4088delAAA
p.K1286del

Nucleotide change:

4086del3

Links:

dbSNP: rs80359406

NCBI 1000 Genomes Browser:

rs80359406

Molecular consequence:

NM_000059.4:c.3858_3860del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hepatoblastoma
Identifiers:: MONDO: MONDO:0018666; MedGen: C0206624; Human Phenotype Ontology: HP:0002884

Recent activity

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Acute Generalized Exanthematous Pustulosis
Acute Generalized Exanthematous Pustulosis
Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of an...<br/>Year introduced: 2010

MeSH
D011666 (1)
MeSH
D056150 (1)
MeSH
Pulmonary Valve Stenosis
Pulmonary Valve Stenosis
The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve...<br/>Year introduced: 1967

MeSH
GALC [Lynx rufus]
GALC [Lynx rufus]
Gene ID:124512590

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002103124	Molecular Oncology - Human Genetics Lab, University of Sao Paulo	no assertion criteria provided	Uncertain significance	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002103124

Molecular Oncology - Human Genetics Lab, University of Sao Paulo

no assertion criteria provided

Uncertain significance

germline

research

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	research

Details of each submission

From Molecular Oncology - Human Genetics Lab, University of Sao Paulo, SCV002103124.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Nov 10, 2024

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