NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) AND Deficiency of alpha-mannosidase

Clinical significance:Uncertain significance (Last evaluated: Sep 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000001756.6

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)]

NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)

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.1067C>G (p.Pro356Arg)
HGVS:
  • NC_000019.10:g.12658470G>C
  • NG_008318.1:g.13308C>G
  • NM_000528.4:c.1067C>GMANE SELECT
  • NM_001173498.2:c.1064C>G
  • NP_000519.2:p.Pro356Arg
  • NP_001166969.1:p.Pro355Arg
  • NC_000019.9:g.12769284G>C
  • NM_000528.3:c.1067C>G
  • O00754:p.Pro356Arg
Protein change:
P355R; PRO356ARG
Links:
UniProtKB: O00754#VAR_003343; OMIM: 609458.0005; dbSNP: rs121434333
NCBI 1000 Genomes Browser:
rs121434333
Molecular consequence:
  • NM_000528.4:c.1067C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.1064C>G - 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
SCV000021912OMIMno assertion criteria providedPathogenic
(Oct 1, 1998)
germlineliterature only

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

SCV000243989ClinVar 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,

SCV002014546Nilou-Genome Labcriteria provided, single submitter
Uncertain significance
(Sep 5, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T.

Am J Hum Genet. 1998 Oct;63(4):1015-24.

PubMed [citation]
PMID:
9758606
PMCID:
PMC1377481

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 OMIM, SCV000021912.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a fibroblast cell line from a 2-year-old girl with severe alpha-mannosidosis (MANSA; 248500), Gotoda et al. (1998) identified a homozygous C-to-T transversion in exon 8 of the MAN2B1 gene, resulting in a pro356-to-arg (P356R) substitution. The patient showed severe growth failure with hypotonia, psychomotor retardation, and hepatosplenomegaly.

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

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000243989.1

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

From Nilou-Genome Lab, SCV002014546.1

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

Last Updated: Nov 27, 2021

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