NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 6, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001812963.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del)]

NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del)

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.8944_8946del (p.Lys2982del)

HGVS:

NC_000013.10:g.32953641_32953643del
NC_000013.11:g.32379506_32379508del
NG_012772.3:g.69027_69029del
NM_000059.4:c.8944_8946delMANE SELECT
NP_000050.3:p.Lys2982del
LRG_293:g.69027_69029del
NC_000013.10:g.32953641_32953643del
NC_000013.10:g.32953643_32953645del
NC_000013.10:g.32953643_32953645delAAA

Protein change:

K2982del

Links:

dbSNP: rs80359733

NCBI 1000 Genomes Browser:

rs80359733

Molecular consequence:

NM_000059.4:c.8944_8946del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RNA polymerase II large subunit, partial [Heterospilus sp. ST69C]
RNA polymerase II large subunit, partial [Heterospilus sp. ST69C]
gi|357527975|gb|AET80275.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001472681	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Nov 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001472681

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Nov 6, 2019)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472681.1

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

Description

The BRCA2 c.8944_8946delAAA; p.Lys2982del variant, to our knowledge, is not reported in the medical literature or gene specific databases. It is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a single lysine residue leaving the rest of the protein in-frame. Due to limited information, the clinical significance of the p.Lys2982del variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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