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NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 24, 2019)
Last evaluated:
May 25, 2018
Accession:
VCV000632877.1
Variation ID:
632877
Description:
single nucleotide variant
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NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)

Allele ID
621166
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q24
Genomic location
4: 102690752 (GRCh38) GRCh38 UCSC
4: 103611909 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.103611909C>T
NC_000004.12:g.102690752C>T
NG_012804.1:g.75243G>A
... more HGVS
Protein change
W231*
Other names
-
Canonical SPDI
NC_000004.12:102690751:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
dbSNP: rs763849774
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 25, 2018 RCV000780390.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MANBA - - GRCh38
GRCh37
230 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
Beta-D-mannosidosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917603.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: MANBA c.693G>A (p.Trp231X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)

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
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. Huynh T BMC genomics 2011 PMID: 22369051
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. Sabourdy F BMC medical genetics 2009 PMID: 19728872
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. Riise Stensland HMF Molecular genetics and metabolism 2008 PMID: 18565776
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. Molho-Pessach V Journal of the American Academy of Dermatology 2007 PMID: 17420068

Text-mined citations for rs763849774...

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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