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NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 13, 2019
Accession:
VCV000299386.4
Variation ID:
299386
Description:
single nucleotide variant
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NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)

Allele ID
314782
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 16876968 (GRCh38) GRCh38 UCSC
10: 16918967 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.16876968G>A
NG_008967.1:g.257850C>T
NM_001081.4:c.9035C>T MANE Select NP_001072.2:p.Pro3012Leu missense
... more HGVS
Protein change
P3012L
Other names
-
Canonical SPDI
NC_000010.11:16876967:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00010
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00027
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA5422831
dbSNP: rs143741363
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 12, 2018 RCV000355363.2
Uncertain significance 1 criteria provided, single submitter May 13, 2019 RCV001221712.2
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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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Imerslund-Gräsbeck syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000361627.3
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
(May 13, 2019)
criteria provided, single submitter
Method: clinical testing
Imerslund-Gräsbeck syndrome
Allele origin: germline
Invitae
Accession: SCV001393772.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 3012 of the CUBN protein (p.Pro3012Leu). The proline residue is moderately conserved and there is a … (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 rs143741363...

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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