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NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 2, 2019
Accession:
VCV000299355.4
Variation ID:
299355
Description:
single nucleotide variant
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NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)

Allele ID
321409
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 16825001 (GRCh38) GRCh38 UCSC
10: 16867000 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_540:g.309817G>A
LRG_540t1:c.10846G>A LRG_540p1:p.Ala3616Thr
NC_000010.10:g.16867000C>T
... more HGVS
Protein change
A3616T
Other names
-
Canonical SPDI
NC_000010.11:16825000:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
1000 Genomes Project 0.00020
Links
ClinGen: CA5422271
dbSNP: rs564429505
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 RCV000338931.2
Uncertain significance 1 criteria provided, single submitter Mar 2, 2019 RCV001054711.2
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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
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: SCV000361595.3
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
(Mar 02, 2019)
criteria provided, single submitter
Method: clinical testing
Imerslund-Gräsbeck syndrome
Allele origin: germline
Invitae
Accession: SCV001219060.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 3616 of the CUBN protein (p.Ala3616Thr). The alanine residue is weakly 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 rs564429505...

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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