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NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Feb 26, 2015
Accession:
VCV000196281.1
Variation ID:
196281
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His)

Allele ID
193442
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12665493 (GRCh38) GRCh38 UCSC
19: 12776307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12665493A>G
NC_000019.9:g.12776307A>G
NG_008318.1:g.6285T>C
... more HGVS
Protein change
Y99H
Other names
-
Canonical SPDI
NC_000019.10:12665492:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA243182
UniProtKB: O00754#VAR_068037
dbSNP: rs794727484
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 26, 2015 RCV000177078.1
Uncertain significance 1 no assertion criteria provided Jun 7, 2012 RCV000206921.1
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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
(Feb 26, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228898.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 07, 2012)
no assertion criteria provided
Method: literature only
Deficiency of alpha-mannosidase
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000243958.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://web.expasy.org/variant_pa…

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
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Riise Stensland HM Human mutation 2012 PMID: 22161967
http://web.expasy.org/variant_pages/VAR_068037.html - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MAN2B1 - - - -

Text-mined citations for rs794727484...

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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 Oct 24, 2021