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NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) AND BRIP1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2019
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:
RCV000398289.7

Allele description [Variation Report for NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)]

NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
HGVS:
  • NC_000017.11:g.61683806dup
  • NG_007409.2:g.184754dup
  • NM_032043.3:c.3240dupMANE SELECT
  • NP_114432.2:p.Ala1081fs
  • NP_114432.2:p.Ala1081fs
  • LRG_300t1:c.3240dup
  • LRG_300:g.184754dup
  • LRG_300p1:p.Ala1081fs
  • NC_000017.10:g.59761166_59761167insA
  • NC_000017.10:g.59761167dup
  • NM_032043.2:c.3240dup
  • NM_032043.2:c.3240dupT
Protein change:
A1081fs
Links:
dbSNP: rs779741278
NCBI 1000 Genomes Browser:
rs779741278
Molecular consequence:
  • NM_032043.3:c.3240dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
BRIP1-related disorder
Synonyms:
BRIP1-Related Disorders; BRIP1-related condition
Identifiers:
MedGen: CN239206

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000404577Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Apr 5, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000404577.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRIP1 c.3240dupT (p.Ala1081CysfsTer5) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00012 in the East Asian population from the Exome Aggregation Consortium but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Ala1081CysfsTer5 variant is classified as a variant of unknown significance but suspicious for pathogenicity for BRIP1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024