NM_000059.4(BRCA2):c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 8, 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:: RCV002353077.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer)]

NM_000059.4(BRCA2):c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer)

HGVS:

NC_000013.11:g.32338145_32338155delinsTTATC
NG_012772.3:g.27666_27676delinsTTATC
NM_000059.4:c.3790_3800delinsTTATCMANE SELECT
NM_001406719.1:c.3790_3800delAAATGTCATGAinsTTATC
NM_001406720.1:c.3790_3800delAAATGTCATGAinsTTATC
NP_000050.2:p.Lys1264_Asp1267delinsLeuSer
NP_000050.3:p.Lys1264_Asp1267delinsLeuSer
NP_001393648.1:p.Lys1264_Asp1267delinsLeuSer
NP_001393649.1:p.Lys1264_Asp1267delinsLeuSer
LRG_293t1:c.3790_3800delAAATGTCATGAinsTTATC
LRG_293:g.27666_27676delinsTTATC
LRG_293p1:p.Lys1264_Asp1267delinsLeuSer
NC_000013.10:g.32912282_32912292delinsTTATC
NM_000059.3:c.3790_3800del11insTTATC
NM_000059.3:c.3790_3800delAAATGTCATGAinsTTATC
NR_176251.1:n.3989_3999delAAATGTCATGAinsTTATC

Molecular consequence:

NM_000059.4:c.3790_3800delinsTTATC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406719.1:c.3790_3800delAAATGTCATGAinsTTATC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406720.1:c.3790_3800delAAATGTCATGAinsTTATC - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV002620099	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 8, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002620099

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 8, 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, SCV002620099.2

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

Description

The c.3790_3800del11insTTATC variant (also known as p.K1264_D1267delinsLS), located in coding exon 10 of the BRCA2 gene, results from an in-frame deletion of 11 nucleotides and insertion of TTATC at nucleotide positions 3790 to 3800. This results in the substitution of lysine, cysteine, histidine and aspartic acid residues for a lysine and serine residue at codons 1264 through 1267. These amino acid positions are 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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