NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 10, 2021
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:: RCV001733420.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs)]

NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs)

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.9944_9948del (p.Lys3315fs)

HGVS:

NC_000013.11:g.32398457_32398461del
NG_012772.3:g.87978_87982del
NM_000059.4:c.9944_9948delMANE SELECT
NP_000050.3:p.Lys3315fs
LRG_293t1:c.9944_9948del
LRG_293:g.87978_87982del
NC_000013.10:g.32972594_32972598del
NM_000059.3:c.9944_9948delAAGAA

Protein change:

K3315fs

Links:

dbSNP: rs2137665218

NCBI 1000 Genomes Browser:

rs2137665218

Molecular consequence:

NM_000059.4:c.9944_9948del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001983743	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001983743

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 10, 2021)

germline

clinical testing

Citation Link

Help

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001983743.1

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

Description

Variant summary: BRCA2 c.9944_9948delAAGAA (p.Lys3315ThrfsX10) results in a premature termination codon in the 3' terminus of BRCA2, which may not trigger nonsense-mediated mRNA decay. Truncations downstream of this position have been classified as VUS in our internal database and other databases. The variant was absent in 251244 control chromosomes. To our knowledge, no occurrence of c.9944_9948delAAGAA in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS.

#	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: Sep 1, 2024

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