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NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 24, 2019)
Last evaluated:
Dec 27, 2018
Accession:
VCV000208254.2
Variation ID:
208254
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)

Allele ID
204516
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12664832 (GRCh38) GRCh38 UCSC
19: 12775646 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12664832G>C
NC_000019.9:g.12775646G>C
NG_008318.1:g.6946C>G
... more HGVS
Protein change
P197R
Other names
-
Canonical SPDI
NC_000019.10:12664831:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA351013
UniProtKB: O00754#VAR_068039
dbSNP: rs864621977
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Dec 27, 2018 RCV000207004.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Dec 27, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917601.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MAN2B1 c.590C>G (p.Pro197Arg) results in a non-conservative amino acid change located in the Glycoside hydrolase family 38, N-terminal domain of the encoded protein … (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: SCV000243960.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://web.expasy.org/variant_pa…

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
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis. Riise Stensland HM Human mutation 2015 PMID: 25762455
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Riise Stensland HM Human mutation 2012 PMID: 22161967
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. Kuokkanen E Human molecular genetics 2011 PMID: 21505070
http://web.expasy.org/variant_pages/VAR_068039.html - - - -

Text-mined citations for rs864621977...

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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