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NM_000528.4(MAN2B1):c.764-1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 1, 2017
Accession:
VCV000554714.1
Variation ID:
554714
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.764-1G>C

Allele ID
548695
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12663463 (GRCh38) GRCh38 UCSC
19: 12774277 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12663463C>G
NC_000019.9:g.12774277C>G
NM_000528.4:c.764-1G>C MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:12663462:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555709533
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 1, 2017 RCV000670394.1
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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
626 646

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: unknown
Counsyl
Accession: SCV000795239.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)

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
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Hansen G The Biochemical journal 2004 PMID: 15035660
Spectrum of mutations in alpha-mannosidosis. Berg T American journal of human genetics 1999 PMID: 9915946

Text-mined citations for rs1555709533...

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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 Jan 25, 2021