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NM_001081.4(CUBN):c.10119C>A (p.Val3373=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000299367.5
Variation ID:
299367
Description:
single nucleotide variant
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NM_001081.4(CUBN):c.10119C>A (p.Val3373=)

Allele ID
320801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 16836296 (GRCh38) GRCh38 UCSC
10: 16878295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_540:g.298522C>A
LRG_540t1:c.10119C>A LRG_540p1:p.Val3373=
NC_000010.10:g.16878295G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:16836295:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00134
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00246
The Genome Aggregation Database (gnomAD), exomes 0.00178
Exome Aggregation Consortium (ExAC) 0.00186
Trans-Omics for Precision Medicine (TOPMed) 0.00188
Links
ClinGen: CA5422474
dbSNP: rs139596037
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 RCV000267153.2
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV000638876.4
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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
923 945

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: SCV000361608.3
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)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Imerslund-Gräsbeck syndrome
Allele origin: germline
Invitae
Accession: SCV000760430.4
Submitted: (Jan 07, 2021)
Evidence details

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 rs139596037...

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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 Oct 30, 2021