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NM_032043.2(BRIP1):c.93+2dup

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 30, 2018)
Last evaluated:
Jul 10, 2014
Accession:
VCV000185373.1
Variation ID:
185373
Description:
1bp duplication
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NM_032043.2(BRIP1):c.93+2dup

Allele ID
185325
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17q23.2
Genomic location
17: 61861445 (GRCh38) GRCh38 UCSC
17: 59938806 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.59938806dup
NC_000017.11:g.61861445dup
NM_032043.2:c.93+2dup splice donor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA191756
dbSNP: rs786202125
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 10, 2014 RCV000164782.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRIP1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2250 2286

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 10, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215459.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019