NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 29, 2018
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:: RCV000212320.3

Allele description

NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs)

HGVS:

NC_000017.11:g.61744434_61744435del
NG_007409.2:g.124126_124127del
NM_032043.2:c.2255_2256del
NP_114432.2:p.Lys752fs
LRG_300t1:c.2255_2256del
LRG_300:g.124126_124127del
LRG_300p1:p.Lys752fs
NC_000017.10:g.59821795_59821796del
NM_032043.2:c.2255_2256delAA
p.K752RFS*12
p.K752RfsX12

Protein change:

K752fs

Links:

dbSNP: rs730881649

NCBI 1000 Genomes Browser:

rs730881649

Molecular consequence:

NM_032043.2:c.2255_2256del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210871	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 29, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210871

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 29, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000210871.14

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

Description

This pathogenic variant is denoted BRIP1 c.2255_2256delAA at the cDNA level and p.Lys752ArgfsX12 (K752RfsX12) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAGA[delAA]Ggta, where the capital letters are exonic and lowercase are intronic. The deletion causes a frameshift, which changes a Lysine to an Arginine at codon 752, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRIP1 c.2255_2256delAA, also reported as BRIP1 c.2255delAA, has been observed in individuals with breast and/or ovarian cancer as well as in the compound heterozygous state in an individual with Fanconi Anemia (Levitus 2005, Seal 2006, Ramus 2015, Tung 2016). We consider this variant to be pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 2, 2019

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