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NM_000528.4(MAN2B1):c.2437-5C>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 10, 2021)
Last evaluated:
Sep 5, 2021
Accession:
VCV000761009.6
Variation ID:
761009
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.2437-5C>G

Allele ID
776667
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12648407 (GRCh38) GRCh38 UCSC
19: 12759221 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.12759221G>C
NC_000019.10:g.12648407G>C
NG_008318.1:g.23371C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:12648406:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
dbSNP: rs200695002
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Sep 5, 2021 RCV000939012.6
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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
631 651

Submitted interpretations and evidence

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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: SCV001287688.1
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
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001084845.3
Submitted: (Jan 07, 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: SCV002014530.1
Submitted: (Nov 10, 2021)
Evidence details
Uncertain significance
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
Alpha-mannosidosis
Allele origin: germline
Natera, Inc.
Accession: SCV001453910.1
Submitted: (Dec 28, 2020)
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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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 rs200695002...

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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 12, 2021