NM_000059.4(BRCA2):c.9933del (p.Pro3311_Ile3312insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 2020
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:: RCV002382870.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.9933del (p.Pro3311_Ile3312insTer)]

NM_000059.4(BRCA2):c.9933del (p.Pro3311_Ile3312insTer)

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.9933del (p.Pro3311_Ile3312insTer)

HGVS:

NC_000013.11:g.32398446del
NG_012772.3:g.87967del
NM_000059.4:c.9933delMANE SELECT
NM_001406719.1:c.9837delC
NM_001406720.1:c.9882delC
NM_001406721.1:c.5001delC
NM_001406722.1:c.3516delC
NP_000050.2:p.Ile3312Terfs
NP_000050.3:p.Pro3311_Ile3312insTer
NP_001393648.1:p.Ile3280Terfs
NP_001393649.1:p.Ile3295Terfs
NP_001393650.1:p.Ile1668Terfs
NP_001393651.1:p.Ile1173Terfs
LRG_293t1:c.9933del
LRG_293:g.87967del
LRG_293p1:p.Ile3312Terfs
NC_000013.10:g.32972583del
NM_000059.3:c.9933delC
NR_176251.1:n.10196delC

Molecular consequence:

NM_000059.4:c.9933del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406719.1:c.9837delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406720.1:c.9882delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406721.1:c.5001delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406722.1:c.3516delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406719.1:c.9837delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001406720.1:c.9882delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001406721.1:c.5001delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001406722.1:c.3516delC - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002691048	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 2, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002691048

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 2, 2020)

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 Ambry Genetics, SCV002691048.2

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

Description

The c.9933delC variant, located in coding exon 26 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 9933, causing a translational frameshift with a predicted alternate stop codon (p.I3312*). This alteration occurs at the 3' terminus of theBRCA2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 108 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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