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NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Oct 31, 2018
Accession:
VCV000347083.2
Variation ID:
347083
Description:
single nucleotide variant
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NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)

Allele ID
291854
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q24
Genomic location
4: 102634907 (GRCh38) GRCh38 UCSC
4: 103556064 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.103556064G>A
NC_000004.12:g.102634907G>A
NM_005908.4:c.2296C>T MANE Select NP_005899.3:p.Arg766Trp missense
... more HGVS
Protein change
R766W
Other names
-
Canonical SPDI
NC_000004.12:102634906:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00031
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00021
Links
ClinGen: CA3026656
dbSNP: rs147428514
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000380220.4
Uncertain significance 1 no assertion criteria provided May 1, 2017 RCV000675783.1
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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
223 234

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 22, 2018)
criteria provided, single submitter
Method: clinical testing
Beta-D-mannosidosis
Allele origin: germline
Invitae
Accession: SCV000828320.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 766 of the MANBA protein (p.Arg766Trp). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Beta-D-mannosidosis
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895603.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Beta-D-mannosidosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000446772.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(May 01, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801504.1
Submitted: (May 23, 2018)
Evidence details

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs147428514...

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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 May 19, 2021