NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) AND Deficiency of alpha-mannosidase

Clinical significance:Uncertain significance (Last evaluated: Sep 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000779250.3

Allele description [Variation Report for NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)]

NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
HGVS:
  • NC_000019.10:g.12663370C>T
  • NG_008318.1:g.8408G>A
  • NG_015814.1:g.1567C>T
  • NM_000528.4:c.856G>AMANE SELECT
  • NM_001173498.2:c.856G>A
  • NP_000519.2:p.Glu286Lys
  • NP_001166969.1:p.Glu286Lys
  • NC_000019.9:g.12774184C>T
  • NM_000528.3:c.856G>A
Protein change:
E286K
Links:
dbSNP: rs772562587
NCBI 1000 Genomes Browser:
rs772562587
Molecular consequence:
  • NM_000528.4:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of alpha-mannosidase (MANSA)
Synonyms:
Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, alpha B lysosomal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009561; MedGen: C0024748; Orphanet: 61; OMIM: 248500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915813Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(Sep 25, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001428322Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lilleno assertion criteria providedLikely pathogenic
(Jan 1, 2019)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.

Wu X, Pan J, Guo Y, Guo C, Jiang W, Li R, Tang J, Ai Y.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):491-5. doi: 10.1515/jpem-2013-0307.

PubMed [citation]
PMID:
24353136

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000915813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MAN2B1 c.856G>A (p.Glu286Lys) variant is a missense variant that has been reported in a compound heterozygous state with a second missense variant in one individual alpha-mannosidosis (Wu et al. 2014). The p.Glu286Lys variant was absent from 100 control subjects but was reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. The evidence for this variant is limited. The p.Glu286Lys variant is classified as unknown significance but suspicious for pathogenicity for alpha-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

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001428322.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 8, 2022

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