NM_000059.4(BRCA2):c.1093_1101del (p.Pro365_Asp367del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 2023
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:: RCV003302166.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.1093_1101del (p.Pro365_Asp367del)]

NM_000059.4(BRCA2):c.1093_1101del (p.Pro365_Asp367del)

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.1093_1101del (p.Pro365_Asp367del)

HGVS:

NC_000013.11:g.32332571_32332579del
NG_012772.3:g.22092_22100del
NM_000059.4:c.1093_1101delMANE SELECT
NM_001406719.1:c.1093_1101del
NM_001406720.1:c.1093_1101del
NM_001406721.1:c.1093_1101del
NM_001406722.1:c.424+1541_424+1549del
NP_000050.2:p.Pro365_Asp367del
NP_000050.3:p.Pro365_Asp367del
NP_001393648.1:p.Pro365_Asp367del
NP_001393649.1:p.Pro365_Asp367del
NP_001393650.1:p.Pro365_Asp367del
LRG_293t1:c.1093_1101del
LRG_293:g.22092_22100del
LRG_293p1:p.Pro365_Asp367del
NC_000013.10:g.32906708_32906716del
NM_000059.3:c.1093_1101delCCATTAGAT
NR_176251.1:n.1292_1300del

Molecular consequence:

NM_000059.4:c.1093_1101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406719.1:c.1093_1101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406720.1:c.1093_1101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406721.1:c.1093_1101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406722.1:c.424+1541_424+1549del - intron variant - [Sequence Ontology: SO:0001627]
NR_176251.1:n.1292_1300del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004005476	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004005476

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 15, 2023)

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, SCV004005476.2

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

Description

The c.1093_1101delCCATTAGAT variant (also known as p.P365_D367del) is located in coding exon 9 of the BRCA2 gene. This variant results from an in-frame CCATTAGAT deletion at nucleotide positions 1093 to 1101. This results in the in-frame deletion of three amino acids at codon 365 to 367. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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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