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NM_032043.2(BRIP1):c.296A>C (p.Asp99Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Mar 20, 2015
Accession:
VCV000418715.2
Variation ID:
418715
Description:
single nucleotide variant
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NM_032043.2(BRIP1):c.296A>C (p.Asp99Ala)

Allele ID
410160
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.2
Genomic location
17: 61857141 (GRCh38) GRCh38 UCSC
17: 59934502 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.59934502T>G
NC_000017.11:g.61857141T>G
NM_032043.2:c.296A>C NP_114432.2:p.Asp99Ala missense
... more HGVS
Protein change
D99A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16620546
dbSNP: rs773532701
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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 Mar 20, 2015 RCV000478481.1
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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
(Mar 20, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565979.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted BRIP1 c.296A>C at the cDNA level, p.Asp99Ala (D99A) at the protein level, and results in the change of an Aspartic Acid ... (more)

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