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NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 31, 2021)
Last evaluated:
Oct 6, 2017
Accession:
VCV000594436.2
Variation ID:
594436
Description:
single nucleotide variant
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NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)

Allele ID
585499
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q24
Genomic location
4: 102657764 (GRCh38) GRCh38 UCSC
4: 103578921 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.103578921C>T
NC_000004.12:g.102657764C>T
NG_012804.1:g.108231G>A
... more HGVS
Protein change
W541*
Other names
-
Canonical SPDI
NC_000004.12:102657763:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs771865668
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 6, 2017 RCV000729716.1
Likely pathogenic 1 no assertion criteria provided - RCV001356140.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MANBA - - GRCh38
GRCh37
230 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000857402.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Beta-D-mannosidosis
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551214.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
MANBA, c.1622G>A, p.Trp541*, Heterozygous, Likely PathogenicVariant Interpretation: The p.Trp541* variant was not identified in the literature, nor was it identified in the LOVD 3.0 database. … (more)

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MANBA - - - -

Text-mined citations for rs771865668...

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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 27, 2021