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NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 10, 2021)
Last evaluated:
Sep 5, 2021
Accession:
VCV000001684.3
Variation ID:
1684
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)

Allele ID
16723
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12665750 (GRCh38) GRCh38 UCSC
19: 12776564 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O00754:p.His72Leu
NC_000019.10:g.12665750T>A
NG_008318.1:g.6028A>T
... more HGVS
Protein change
H72L
Other names
H71L
Canonical SPDI
NC_000019.10:12665749:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA339900
UniProtKB: O00754#VAR_003338
OMIM: 609458.0001
dbSNP: rs387906261
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Sep 5, 2021 RCV000001752.5
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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
631 651

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 13, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001581395.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces histidine with leucine at codon 72 of the MAN2B1 protein (p.His72Leu). The histidine residue is highly conserved and there is a … (more)
Likely pathogenic
(Sep 05, 2021)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002014520.1
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: SCV000243988.1
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: SCV000021908.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (4)

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
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. Damme M Annals of clinical and translational neurology 2015 PMID: 26817023
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Hansen G The Biochemical journal 2004 PMID: 15035660
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
Characterization of the human MANB gene encoding lysosomal alpha-D-mannosidase. Wakamatsu N Gene 1997 PMID: 9370301
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Nilssen O Human molecular genetics 1997 PMID: 9158146
A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation. Bach G Pediatric research 1978 PMID: 724292
http://web.expasy.org/variant_pages/VAR_003338.html - - - -

Text-mined citations for rs387906261...

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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 20, 2021