NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) AND Deficiency of alpha-mannosidase

Clinical significance:Likely pathogenic (Last evaluated: Mar 28, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000667065.2

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)]

NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
HGVS:
  • NC_000019.10:g.12656632dup
  • NG_008318.1:g.15146dup
  • NM_000528.4:c.1583dupMANE SELECT
  • NM_001173498.1:c.1580dup
  • NP_000519.2:p.Pro529fs
  • NP_001166969.1:p.Pro528fs
  • NC_000019.9:g.12767446dup
  • NM_000528.3:c.1583dupT
Protein change:
P528fs
Links:
dbSNP: rs748872992
NCBI 1000 Genomes Browser:
rs748872992
Molecular consequence:
  • NM_000528.4:c.1583dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173498.1:c.1580dup - 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
SCV000791458Counsylcriteria provided, single submitter
Likely pathogenic
(May 12, 2017)
unknownclinical testing

Citation Link,

SCV001367906Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Likely pathogenic
(Mar 28, 2019)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Counsyl, SCV000791458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001367906.2

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

Description

This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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

Last Updated: Jan 25, 2021

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