Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000528.4(MAN2B1):c.2356-2A>G

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 5, 2020)
Last evaluated:
Aug 10, 2015
Accession:
VCV000419533.3
Variation ID:
419533
Description:
single nucleotide variant
Help

NM_000528.4(MAN2B1):c.2356-2A>G

Allele ID
410474
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12649218 (GRCh38) GRCh38 UCSC
19: 12760032 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12649218T>C
NC_000019.9:g.12760032T>C
NM_000528.4:c.2356-2A>G MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:12649217:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16620767
dbSNP: rs1064793936
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 10, 2015 RCV000478158.1
Likely pathogenic 1 criteria provided, single submitter - RCV001251160.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAN2B1 - - GRCh38
GRCh37
626 646

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 10, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000567399.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.2356-2A>G variant in the MAN2B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Centogene AG - the Rare Disease Company
Accession: SCV001426563.1
Submitted: (Aug 05, 2020)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Bertoli-Avella AM European journal of human genetics : EJHG 2021 PMID: 32860008

Text-mined citations for rs1064793936...

Help
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 Mar 07, 2021