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NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 5, 2020)
Last evaluated:
Sep 25, 2018
Accession:
VCV000632303.3
Variation ID:
632303
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)

Allele ID
620627
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12663370 (GRCh38) GRCh38 UCSC
19: 12774184 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12663370C>T
NC_000019.9:g.12774184C>T
NG_008318.1:g.8408G>A
... more HGVS
Protein change
E286K
Other names
-
Canonical SPDI
NC_000019.10:12663369:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs772562587
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Sep 25, 2018 RCV000779250.3
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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
634 654

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Sep 25, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000915813.1
Submitted: (Feb 01, 2019)
Publications:
PubMed (1)
PubMed: 24353136
Comment:
The MAN2B1 c.856G>A (p.Glu286Lys) variant is a missense variant that has been reported in a compound heterozygous state with a second missense variant in one … (more)
Likely pathogenic
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Deficiency of alpha-mannosidase
Affected status: yes
Allele origin: unknown
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001428322.1
Submitted: (May 05, 2020)
Publications:
PubMed (1)
PubMed: 25741868

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation. Wu X Journal of pediatric endocrinology & metabolism : JPEM 2014 PMID: 24353136

Text-mined citations for rs772562587...

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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 Jan 08, 2022