NM_032043.3(BRIP1):c.3503_3504del (p.Lys1168fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 2021
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:: RCV002337544.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.3503_3504del (p.Lys1168fs)]

NM_032043.3(BRIP1):c.3503_3504del (p.Lys1168fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3503_3504del (p.Lys1168fs)

HGVS:

NC_000017.11:g.61683543_61683544del
NG_007409.2:g.185017_185018del
NM_032043.3:c.3503_3504delMANE SELECT
NP_114432.2:p.Lys1168Argfs
NP_114432.2:p.Lys1168fs
LRG_300t1:c.3502_3503del
LRG_300:g.185017_185018del
LRG_300p1:p.Lys1168Argfs
NC_000017.10:g.59760904_59760905del
NM_032043.2:c.3502_3503delAA
NM_032043.2:c.3503_3504delAA

Protein change:

K1168fs

Molecular consequence:

NM_032043.3:c.3503_3504del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Mfsd4b3-ps major facilitator superfamily domain containing 4B3, pseudogene [Mus ...
Mfsd4b3-ps major facilitator superfamily domain containing 4B3, pseudogene [Mus musculus]
Gene ID:100041085

Gene
100041085[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002618701	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002618701

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 1, 2021)

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, SCV002618701.2

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

Description

The c.3503_3504delAA variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 3503 to 3504, causing a translational frameshift with a predicted alternate stop codon (p.K1168Rfs*4). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 82 amino acids of the protein. 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: May 1, 2024

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