NM_032043.3(BRIP1):c.1312del (p.Leu438fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 27, 2016
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:: RCV000479813.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.1312del (p.Leu438fs)]

NM_032043.3(BRIP1):c.1312del (p.Leu438fs)

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.1312del (p.Leu438fs)

HGVS:

NC_000017.11:g.61799131del
NG_007409.2:g.69432del
NM_032043.3:c.1312delMANE SELECT
NP_114432.2:p.Leu438fs
LRG_300:g.69432del
NC_000017.10:g.59876492del
NM_032043.2:c.1312delC

Protein change:

L438fs

Links:

dbSNP: rs1064795413

NCBI 1000 Genomes Browser:

rs1064795413

Molecular consequence:

NM_032043.3:c.1312del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV000571189	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jul 27, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571189

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jul 27, 2016)

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, SCV000571189.4

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

Description

This deletion of one nucleotide in BRIP1 is denoted c.1312delC at the cDNA level and p.Leu438TyrfsX12 (L438YfsX12) at the protein level. The normal sequence, with the base that is deleted in braces, is ACCC[C]TACG. The deletion causes a frameshift which changes a Leucine to a Tyrosine at codon 438, and creates a premature stop codon at position 12 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

#	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: Sep 8, 2024

ClinVar

Relating variation to medicine