NM_000059.4(BRCA2):c.2724_2725delinsCA (p.Glu908_Leu909delinsAspIle) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 6, 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:: RCV004517314.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2724_2725delinsCA (p.Glu908_Leu909delinsAspIle)]

NM_000059.4(BRCA2):c.2724_2725delinsCA (p.Glu908_Leu909delinsAspIle)

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.2724_2725delinsCA (p.Glu908_Leu909delinsAspIle)

HGVS:

NC_000013.11:g.32337079_32337080delinsCA
NG_012772.3:g.26600_26601delinsCA
NM_000059.4:c.2724_2725delinsCAMANE SELECT
NM_001406719.1:c.2724_2725delinsCA
NM_001406720.1:c.2724_2725delinsCA
NM_001406721.1:c.1909+3692_1909+3693delinsCA
NM_001406722.1:c.424+6049_424+6050delinsCA
NP_000050.2:p.Glu908_Leu909delinsAspIle
NP_000050.3:p.Glu908_Leu909delinsAspIle
NP_001393648.1:p.Glu908_Leu909delinsAspIle
NP_001393649.1:p.Glu908_Leu909delinsAspIle
LRG_293t1:c.2724_2725delACinsCA
LRG_293:g.26600_26601delinsCA
LRG_293p1:p.Glu908_Leu909delinsAspIle
NC_000013.10:g.32911216_32911217delinsCA
NM_000059.3:c.2724_2725delACinsCA
NR_176251.1:n.2923_2924delinsCA

Molecular consequence:

NM_001406721.1:c.1909+3692_1909+3693delinsCA - intron variant - [Sequence Ontology: SO:0001627]
NM_001406722.1:c.424+6049_424+6050delinsCA - intron variant - [Sequence Ontology: SO:0001627]
NM_000059.4:c.2724_2725delinsCA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406719.1:c.2724_2725delinsCA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406720.1:c.2724_2725delinsCA - missense variant - [Sequence Ontology: SO:0001583]
NR_176251.1:n.2923_2924delinsCA - 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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RecName: Full=Potassium voltage-gated channel subfamily E member 2; AltName: Ful...
RecName: Full=Potassium voltage-gated channel subfamily E member 2; AltName: Full=MinK-related peptide 1; AltName: Full=Minimum potassium ion channel-related peptide 1; AltName: Full=Potassium channel subunit beta MiRP1
gi|26006821|sp|Q9D808.2|KCNE2_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005025645	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005025645

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 6, 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, SCV005025645.1

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

Description

The c.2724_2725delACinsCA variant (also known as p.E908_L909delinsDI), located in coding exon 10 of the BRCA2 gene, results from an in-frame deletion of AC and insertion of CA at nucleotide positions 2724 to 2725. This results in the substitution of glutamate and leucine residues for a aspartate and isoleucine residue at codon 908 and 909. This amino acid region is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (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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