NM_005908.4(MANBA):c.378+1G>A AND Beta-D-mannosidosis

Clinical significance:Uncertain significance (Last evaluated: Dec 3, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000709926.2

Allele description [Variation Report for NM_005908.4(MANBA):c.378+1G>A]

NM_005908.4(MANBA):c.378+1G>A

Gene:
MANBA:mannosidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_005908.4(MANBA):c.378+1G>A
HGVS:
  • NC_000004.12:g.102723861C>T
  • NG_012804.1:g.42134G>A
  • NG_012804.2:g.42134G>A
  • NM_005908.4:c.378+1G>AMANE SELECT
  • NC_000004.11:g.103645018C>T
  • NM_005908.3:c.378+1G>A
Links:
dbSNP: rs142029636
NCBI 1000 Genomes Browser:
rs142029636
Molecular consequence:
  • NM_005908.4:c.378+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Beta-D-mannosidosis (MANSB)
Synonyms:
Mannosidosis, beta A, lysosomal; Lysosomal beta-mannosidase deficiency; Beta-mannosidase deficiency
Identifiers:
MONDO: MONDO:0009562; MedGen: C4048196; Orphanet: 118; OMIM: 248510

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000840275GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

SCV000915068Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Dec 3, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GenomeConnect, ClinGen, SCV000840275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000915068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MANBA c.378+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found through this search. This variant is reported at a frequency of 0.000024 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the potential impact of splice donor variants and the lack of clarifying evidence, the c.378+1G>A variant is classified as a variant of unknown significance but suspicious for pathogenicity for beta-mannosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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