Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 7, 2020
Accession:
VCV000837291.3
Variation ID:
837291
Description:
single nucleotide variant
Help

NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)

Allele ID
847285
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12652245 (GRCh38) GRCh38 UCSC
19: 12763059 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12652245C>A
NC_000019.9:g.12763059C>A
NG_008318.1:g.19533G>T
... more HGVS
Protein change
E651*, E652*
Other names
-
Canonical SPDI
NC_000019.10:12652244:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 7, 2020 RCV001038590.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAN2B1 - - GRCh38
GRCh37
626 646

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 07, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001202068.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Glu652*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Dec 25, 2019)
no assertion criteria provided
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442226.1
Submitted: (Oct 30, 2020)
Comment:
NM_000528.3(MAN2B1):c.1954G>T(E652*) is expected to be pathogenic in the context of alpha-mannosidosis. This variant is predicted to lead to an abnormal or absent protein product due … (more)
Evidence details

Functional evidence

Help
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

Help
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
Spectrum of mutations in alpha-mannosidosis. Berg T American journal of human genetics 1999 PMID: 9915946

Record last updated Oct 24, 2021