NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) AND Ovarian cancer

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 26, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003155931.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)]

NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)

Gene:

BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)

HGVS:

NC_000017.11:g.61683655AGAT[1]
NG_007409.2:g.184900CTAT[1]
NM_032043.3:c.3390_3393delMANE SELECT
NP_114432.2:p.Tyr1131fs
LRG_300t1:c.3390_3393del
LRG_300:g.184900CTAT[1]
NC_000017.10:g.59761014_59761017del
NC_000017.10:g.59761016AGAT[1]
NM_032043.2:c.3390_3393del
NM_032043.2:c.3390_3393delCTAT

Protein change:

Y1131fs

Links:

dbSNP: rs778664039

NCBI 1000 Genomes Browser:

rs778664039

Molecular consequence:

NM_032043.3:c.3390_3393del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Ovarian cancer
Synonyms:: OVARIAN CANCER, SOMATIC
Identifiers:: MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000

Recent activity

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NADH dehydrogenase subunit 6 (mitochondrion) [Fulmarus glacialis]
NADH dehydrogenase subunit 6 (mitochondrion) [Fulmarus glacialis]
gi|1910804045|gb|QOD97298.1|

Protein
Huang Qi [Supplementary Concept]
Huang Qi [Supplementary Concept]
Root extract preparation from Astragalus propinquus that is used in traditional Chinese medicine and is thought to posses anti-ageing properties.<br/>Date introduced: January 12, 1981<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002588956	BRCAlab, Lund University	no assertion criteria provided	Likely pathogenic (Aug 26, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002588956

BRCAlab, Lund University

no assertion criteria provided

Likely pathogenic
(Aug 26, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	3	not provided	not provided	not provided	clinical testing

Details of each submission

From BRCAlab, Lund University, SCV002588956.1

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

#	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	3	not provided

Last Updated: Sep 29, 2024

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