NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 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:: RCV002451787.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)]

NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)

Gene:

BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)

HGVS:

NC_000017.11:g.61683666TCT[1]
NG_007409.2:g.184889AGA[1]
NM_032043.2:c.3378_3380del
NM_032043.3:c.3375AGA[1]MANE SELECT
NP_114432.2:p.Glu1126del
NP_114432.2:p.Glu1126del
LRG_300t1:c.3378_3380del
LRG_300:g.184889AGA[1]
NC_000017.10:g.59761027TCT[1]
NM_032043.2:c.3375_3377AGA[1]
NM_032043.2:c.3378_3380delAGA
NM_032043.3:c.3378_3380delMANE SELECT

Protein change:

E1126del

Molecular consequence:

NM_032043.3:c.3375AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002616846	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002616846

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 30, 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, SCV002616846.3

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

Description

The c.3378_3380delAGA variant (also known as p.E1126del) is located in coding exon 19 of the BRIP1 gene. This variant results from an in-frame AGA deletion at nucleotide positions 3378 to 3380. This results in the in-frame deletion of a glutamic acid at codon 1126. This amino acid position is 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: Oct 20, 2024

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