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NM_001081.4(CUBN):c.10363-3A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Oct 7, 2019
Accession:
VCV000299361.3
Variation ID:
299361
Description:
single nucleotide variant
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NM_001081.4(CUBN):c.10363-3A>G

Allele ID
314759
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 16831420 (GRCh38) GRCh38 UCSC
10: 16873419 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_540:g.303398A>G
LRG_540t1:c.10363-3A>G
NC_000010.10:g.16873419T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:16831419:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA5422388
dbSNP: rs765943248
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 Jan 13, 2018 RCV000398850.2
Uncertain significance 1 criteria provided, single submitter Oct 7, 2019 RCV001204197.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CUBN - - GRCh38
GRCh37
927 949

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Imerslund-Gräsbeck syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000361602.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 07, 2019)
criteria provided, single submitter
Method: clinical testing
Juvenile type megaloblastic anemia
Allele origin: germline
Invitae
Accession: SCV001375394.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change falls in intron 64 of the CUBN gene. It does not directly change the encoded amino acid sequence of the CUBN protein, … (more)

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 rs765943248...

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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 Nov 27, 2021