NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu) AND Deficiency of alpha-mannosidase

Clinical significance:Uncertain significance (Last evaluated: Jun 7, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000206913.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)]

NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)

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.1370T>A (p.Val457Glu)
HGVS:
  • NC_000019.10:g.12657495A>T
  • NG_008318.1:g.14283T>A
  • NM_000528.4:c.1370T>AMANE SELECT
  • NM_001173498.2:c.1367T>A
  • NP_000519.2:p.Val457Glu
  • NP_001166969.1:p.Val456Glu
  • NC_000019.9:g.12768309A>T
  • NM_000528.3:c.1370T>A
  • O00754:p.Val457Glu
Protein change:
V456E
Links:
UniProtKB: O00754#VAR_068055; dbSNP: rs864621985
NCBI 1000 Genomes Browser:
rs864621985
Molecular consequence:
  • NM_000528.4:c.1370T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.1367T>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
SCV000243975ClinVar Staff, National Center for Biotechnology Information (NCBI)no assertion criteria providedUncertain significance
(Jun 7, 2012)
germlineliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

Riise Stensland HM, Klenow HB, Van Nguyen L, Hansen GM, Malm D, Nilssen Ø.

Hum Mutat. 2012 Mar;33(3):511-20. doi: 10.1002/humu.22005. Epub 2012 Jan 23. Erratum in: Hum Mutat. 2016 Aug;37(8):827.

PubMed [citation]
PMID:
22161967

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000243975.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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