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NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 10, 2021)
Last evaluated:
Sep 5, 2021
Accession:
VCV000328281.7
Variation ID:
328281
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)

Allele ID
342838
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12665370 (GRCh38) GRCh38 UCSC
19: 12776184 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12665370G>A
NG_008318.1:g.6408C>T
NG_015814.1:g.3567G>A
... more HGVS
Protein change
R140*
Other names
-
Canonical SPDI
NC_000019.10:12665369:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10648318
dbSNP: rs370803545
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 6 criteria provided, multiple submitters, no conflicts Sep 5, 2021 RCV000384198.7
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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
Pathogenic
(Sep 12, 2016)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: unknown
Counsyl
Accession: SCV000486962.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000410811.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The MAN2B1 c.418C>T (p.Arg140Ter) variant is a stop-gained variant and has been reported in at least two studies in which it is found in at … (more)
Pathogenic
(Nov 26, 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: SCV000917600.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: MAN2B1 c.418C>T (p.Arg140X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: inherited
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000965808.1
Submitted: (Apr 26, 2017)
Evidence details
Pathogenic
(Sep 28, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001378221.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg140*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 05, 2021)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002014514.1
Submitted: (Nov 10, 2021)
Evidence details

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
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Borgwardt L Orphanet journal of rare diseases 2015 PMID: 26048034
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Riise Stensland HM Human mutation 2012 PMID: 22161967
Spectrum of mutations in alpha-mannosidosis. Berg T American journal of human genetics 1999 PMID: 9915946

Text-mined citations for rs370803545...

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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