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NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs) AND Ovarian cancer

Germline classification:
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:
RCV003156014.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)]

NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)

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.3396dup (p.Thr1133fs)
HGVS:
  • NC_000017.11:g.61683653dup
  • NG_007409.2:g.184910dup
  • NM_032043.3:c.3396dupMANE SELECT
  • NP_114432.2:p.Thr1133Tyrfs
  • NP_114432.2:p.Thr1133fs
  • LRG_300t1:c.3393dup
  • LRG_300:g.184910dup
  • LRG_300p1:p.Thr1133Tyrfs
  • NC_000017.10:g.59761010_59761011insA
  • NC_000017.10:g.59761014dup
  • NM_032043.2:c.3393dup
Protein change:
T1133fs
Molecular consequence:
  • NM_032043.3:c.3396dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588957BRCAlab, Lund University
no assertion criteria provided
Pathogenic
(Aug 26, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From BRCAlab, Lund University, SCV002588957.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Sep 29, 2024