NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 1, 2022
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:: RCV003169829.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)]

NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)

HGVS:

NC_000017.11:g.61683715C>T
NG_007409.2:g.184845G>A
NM_032043.2:c.3331G>A
NM_032043.3:c.3331G>AMANE SELECT
NP_114432.2:p.Glu1111Lys
LRG_300t1:c.3331G>A
LRG_300:g.184845G>A
NC_000017.10:g.59761076C>T

Protein change:

E1111K

Links:

dbSNP: rs587780248

NCBI 1000 Genomes Browser:

rs587780248

Molecular consequence:

NM_032043.3:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Tssr124546 AND (alive[prop]) (0)
Gene
Tssr37483 AND (alive[prop]) (0)
Gene
Cpgi4046 AND (alive[prop]) (0)
Gene
Caenorhabditis elegans chromosome III
Caenorhabditis elegans chromosome III
gi|453232067|ref|NC_003281.10||gnl| CF_000002985.6|III

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003859901	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003859901

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 1, 2022)

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, SCV003859901.2

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

Description

The p.E1111K variant (also known as c.3331G>A), located in coding exon 19 of the BRIP1 gene, results from a G to A substitution at nucleotide position 3331. The glutamic acid at codon 1111 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 29, 2024

ClinVar

Relating variation to medicine