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NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 10, 2021)
Last evaluated:
Sep 5, 2021
Accession:
VCV000001688.2
Variation ID:
1688
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)

Allele ID
16727
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12658470 (GRCh38) GRCh38 UCSC
19: 12769284 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12658470G>C
NC_000019.9:g.12769284G>C
NG_008318.1:g.13308C>G
... more HGVS
Protein change
P356R, P355R
Other names
-
Canonical SPDI
NC_000019.10:12658469:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA339902
UniProtKB: O00754#VAR_003343
OMIM: 609458.0005
dbSNP: rs121434333
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, single submitter Sep 5, 2021 RCV000001756.6
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 05, 2021)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002014546.1
Submitted: (Nov 10, 2021)
Evidence details
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: SCV000243989.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://web.expasy.org/variant_pa…
Pathogenic
(Oct 01, 1998)
no assertion criteria provided
Method: literature only
ALPHA-MANNOSIDOSIS
Allele origin: germline
OMIM
Accession: SCV000021912.3
Submitted: (Dec 30, 2010)
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
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Gotoda Y American journal of human genetics 1998 PMID: 9758606
http://web.expasy.org/variant_pages/VAR_003343.html - - - -

Text-mined citations for rs121434333...

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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