NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) AND Deficiency of alpha-mannosidase

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000824891.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)]

NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)
HGVS:
  • NC_000019.10:g.12647281_12647296del
  • NG_008318.1:g.24486_24501del
  • NM_000528.4:c.2864_2879delMANE SELECT
  • NM_001173498.1:c.2861_2876del
  • NP_000519.2:p.Thr955fs
  • NP_001166969.1:p.Thr954fs
  • NC_000019.9:g.12758095_12758110del
  • NM_000528.3:c.2864_2879del
Protein change:
T954fs
Links:
dbSNP: rs1599337939
NCBI 1000 Genomes Browser:
rs1599337939
Molecular consequence:
  • NM_000528.4:c.2864_2879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173498.1:c.2861_2876del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000965807Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Pathogenic
(Jan 1, 2015)
inheritedclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965807.1

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

Last Updated: Jan 25, 2021

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