NM_032043.3(BRIP1):c.298del (p.Asp99_Met100insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
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:: RCV000708606.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.298del (p.Asp99_Met100insTer)]

NM_032043.3(BRIP1):c.298del (p.Asp99_Met100insTer)

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.298del (p.Asp99_Met100insTer)

HGVS:

NC_000017.11:g.61857139del
NG_007409.2:g.11421del
NM_032043.3:c.298delMANE SELECT
NP_114432.2:p.Asp99_Met100insTer
LRG_300:g.11421del
NC_000017.10:g.59934500del
NM_032043.2:c.298delA

Links:

dbSNP: rs1567874779

NCBI 1000 Genomes Browser:

rs1567874779

Molecular consequence:

NM_032043.3:c.298del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000821720	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000821720

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneKor MSA, SCV000821720.2

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

Description

This variant is a single base pair deletion from exon 4 of the BRIP1 mRNA, causing a frameshift at codon 100. This creates a premature translation stop signal at this position and is expected to result in an absent or disrupted protein product.Truncating variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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