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.1822G>A (p.Glu608Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 10, 2021)
Last evaluated:
Sep 5, 2021
Accession:
VCV000451935.8
Variation ID:
451935
Description:
single nucleotide variant
Help

NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)

Allele ID
446032
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12655702 (GRCh38) GRCh38 UCSC
19: 12766516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12655702C>T
NG_008318.1:g.16076G>A
NM_000528.4:c.1822G>A MANE Select NP_000519.2:p.Glu608Lys missense
... more HGVS
Protein change
E608K, E607K
Other names
-
Canonical SPDI
NC_000019.10:12655701:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00306
The Genome Aggregation Database (gnomAD), exomes 0.00122
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00029
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00106
Links
ClinGen: CA9226318
dbSNP: rs145062583
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 13, 2018 RCV001696924.1
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Sep 5, 2021 RCV000969160.6
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001284405.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001116656.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000620699.2
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(Sep 05, 2021)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Nilou-Genome Lab
Accession: SCV002014536.1
Submitted: (Nov 10, 2021)
Evidence details
Benign
(Nov 11, 2019)
no assertion criteria provided
Method: clinical testing
Alpha-mannosidosis
Allele origin: germline
Natera, Inc.
Accession: SCV001455935.1
Submitted: (Dec 28, 2020)
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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs145062583...

Help
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