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NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: May 18, 2020)
Last evaluated:
May 18, 2020
Accession:
VCV000056330.16
Variation ID:
56330
Description:
2bp deletion
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NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)

Allele ID
70969
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
10p13
Genomic location
10: 17071436-17071437 (GRCh38) GRCh38 UCSC
10: 17113435-17113436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.17113436_17113437del
NC_000010.11:g.17071437_17071438del
NG_008967.1:g.63381_63382del
... more HGVS
Protein change
D872fs
Other names
-
Canonical SPDI
NC_000010.11:17071435:TCT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144270
OMIM: 602997.0006
dbSNP: rs386833777
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000049742.1
Pathogenic 1 no assertion criteria provided May 18, 2020 RCV001095373.1
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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
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Megaloblastic anemia due to inborn errors of metabolism
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082149.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Pathogenic
(May 18, 2020)
no assertion criteria provided
Method: literature only
IMERSLUND-GRASBECK SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV001250981.15
Submitted: (May 18, 2020)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation. Ciancio JIR JIMD reports 2019 PMID: 31497480
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Tanner SM Orphanet journal of rare diseases 2012 PMID: 22929189

Text-mined citations for rs386833777...

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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