NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 11, 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:: RCV000657450.4

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gm4748 predicted gene 4748 [Mus musculus]
Gm4748 predicted gene 4748 [Mus musculus]
Gene ID:20366

Gene
20366[uid] AND (alive[prop]) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779185	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 11, 2018)	germline	clinical testing	Citation Link,
SCV001364530	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Aug 13, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779185

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 11, 2018)

germline

clinical testing

Citation Link,

SCV001364530

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Aug 13, 2019)

germline

curation

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.

J Natl Cancer Inst. 2020 Apr 1;112(4):369-376. doi: 10.1093/jnci/djz124.

PubMed [citation]

PMID:: 31214711
PMCID:: PMC7156928

Details of each submission

From GeneDx, SCV000779185.1

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

Description

This duplication of one nucleotide in BRIP1 is denoted c.3240dupT at the cDNA level and p.Ala1081CysfsX5 (A1081CfsX5) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TTGA[dupT]GCCA. The duplication causes a frameshift which changes an Alanine to a Cysteine at codon 1081, and creates a premature stop codon at position 5 of the new reading frame. Due to the position of the variant, nonsense mediated decay is not expected to occur, but the variant might cause loss of normal protein function through protein truncation.?? The disrupted region at the end of the gene is not located in a known functional domain. This variant has been reported in at least one individual with sarcoma, who also carried BRIP1 Glu767Asp (Ballinger 2016). Based on currently available evidence, it is unclear whether this duplication is a pathogenic variant or a benign variant. We consider it to be a variant of uncertain significance.

#	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

From Leiden Open Variation Database, SCV001364530.1

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

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

#	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 29, 2024

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