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.222C>A (p.Asp74Glu)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 19, 2021)
Last evaluated:
Jun 19, 2020
Accession:
VCV000208251.4
Variation ID:
208251
Description:
single nucleotide variant
Help

NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)

Allele ID
204519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12665743 (GRCh38) GRCh38 UCSC
19: 12776557 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12665743G>T
NC_000019.9:g.12776557G>T
NG_008318.1:g.6035C>A
... more HGVS
Protein change
D74E
Other names
-
Canonical SPDI
NC_000019.10:12665742:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA350959
UniProtKB: O00754#VAR_068035
dbSNP: rs746702002
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 Jun 19, 2020 RCV001572479.3
Uncertain significance 1 no assertion criteria provided Jun 7, 2012 RCV000206959.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAN2B1 - - GRCh38
GRCh37
633 653

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001797127.1
Submitted: (Aug 19, 2021)
Evidence details
Comment:
Published functional studies demonstrate a damaging effect (absent alpha-mannosidase activity) (Riise Stensland et al., 2012); Not observed at a significant frequency in large population cohorts … (more)
Uncertain significance
(Jun 07, 2012)
no assertion criteria provided
Method: literature only
Deficiency of alpha-mannosidase
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000243956.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://web.expasy.org/variant_pa…

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
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Riise Stensland HM Human mutation 2012 PMID: 22161967
http://web.expasy.org/variant_pages/VAR_068035.html - - - -

Text-mined citations for rs746702002...

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 Nov 27, 2021