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NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 25, 2015)
Last evaluated:
Jun 7, 2012
Accession:
VCV000208257.1
Variation ID:
208257
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)

Allele ID
204513
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12664817 (GRCh38) GRCh38 UCSC
19: 12775631 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O00754:p.Arg202Pro
NC_000019.10:g.12664817C>G
NC_000019.9:g.12775631C>G
... more HGVS
Protein change
R202P
Other names
-
Canonical SPDI
NC_000019.10:12664816:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA351019
UniProtKB: O00754#VAR_068041
dbSNP: rs864621979
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 no assertion criteria provided Jun 7, 2012 RCV000207009.1
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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
(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: SCV000243963.1
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_068041.html - - - -

Text-mined citations for rs864621979...

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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