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NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 24, 2020)
Last evaluated:
Mar 28, 2019
Accession:
VCV000551897.3
Variation ID:
551897
Description:
1bp duplication
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NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)

Allele ID
548694
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12656631-12656632 (GRCh38) GRCh38 UCSC
19: 12767445-12767446 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12656632dup
NC_000019.9:g.12767446dup
NM_000528.4:c.1583dup MANE Select NP_000519.2:p.Pro529fs frameshift
... more HGVS
Protein change
P529fs, P528fs
Other names
-
Canonical SPDI
NC_000019.10:12656631:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs748872992
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 28, 2019 RCV000667065.2
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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
(May 12, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: unknown
Counsyl
Accession: SCV000791458.1
Submitted: (Jul 10, 2018)
Evidence details
Likely pathogenic
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367906.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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 rs748872992...

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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