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NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 15, 2019
Accession:
VCV000208261.5
Variation ID:
208261
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)

Allele ID
204509
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12658482 (GRCh38) GRCh38 UCSC
19: 12769296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.12769296A>G
NC_000019.10:g.12658482A>G
NG_008318.1:g.13296T>C
... more HGVS
Protein change
L352P, L351P
Other names
-
Canonical SPDI
NC_000019.10:12658481:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA350927
UniProtKB: O00754#VAR_068048
dbSNP: rs864621980
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, multiple submitters, no conflicts May 15, 2019 RCV000206932.4

Clinical features observed in individuals with this variant

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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
(-)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Department of Medical Genetics, Oslo University Hospital
Accession: SCV001437578.1
Submitted: (Sep 16, 2020)
Evidence details
Likely pathogenic
(May 15, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001395540.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with proline at codon 352 of the MAN2B1 protein (p.Leu352Pro). The leucine residue is moderately conserved and there is a … (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: SCV000243967.1
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
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_068048.html - - - -

Text-mined citations for rs864621980...

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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