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NM_015175.3(NBEAL2):c.-14_-9dup

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Dec 6, 2016
Most recent Submission:
Dec 6, 2016
Last evaluated:
Jun 14, 2016
Accession:
VCV000345610.6
Variation ID:
345610
Description:
6bp duplication
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NM_015175.3(NBEAL2):c.-14_-9dup

Allele ID
291693
Variant type
Duplication
Variant length
6 bp
Cytogenetic location
3p21.31
Genomic location
3: 46979842-46979843 (GRCh38) GRCh38 UCSC
3: 47021332-47021333 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015175.3:c.-14_-9dup MANE Select 5 prime UTR
NM_015175.2:c.-14_-9dupAGCCGG
NM_144716.6:c.-73+2084_-73+2089dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:46979842:GCCGGAGCCGG:GCCGGAGCCGGAGCCGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA2359946
dbSNP: rs764010884
VarSome
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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 Jun 14, 2016 RCV000351830.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CCDC12 - - - GRCh38
GRCh37 		3 24
NBEAL2 - - GRCh38
GRCh37 		412 431

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Uncertain significance
(Jun 14, 2016)
 criteria provided, single submitter
(ICSL Variant Classification 20161018)
Method: clinical testing
 Gray Platelet Syndrome
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services, Illumina
Accession: SCV000444819.2
First in ClinVar: Dec 06, 2016
Last updated: Dec 06, 2016

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs764010884...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 18, 2023 

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