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NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter) AND Deficiency of alpha-mannosidase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002281757.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)]

NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)

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.2088G>A (p.Trp696Ter)
HGVS:
  • NC_000019.10:g.12650181C>T
  • NG_008318.1:g.21597G>A
  • NM_000528.4:c.2088G>AMANE SELECT
  • NM_001173498.2:c.2085G>A
  • NP_000519.2:p.Trp696Ter
  • NP_001166969.1:p.Trp695Ter
  • NC_000019.9:g.12760995C>T
  • NM_000528.3:c.2088G>A
Protein change:
W695*
Molecular consequence:
  • NM_000528.4:c.2088G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173498.2:c.2085G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002572116Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Aug 18, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, et al.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

PubMed [citation]
PMID:
22700954
PMCID:
PMC4442637

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002572116.1

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

Description

Variant summary: MAN2B1 c.2088G>A (p.Trp696X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251372 control chromosomes (gnomAD). c.2088G>A has been reported in the literature in multiple homozygous individuals affected with Alpha-Mannosidosis (example: Dixon-Salazar_2012). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 17, 2022