NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) AND Deficiency of alpha-mannosidase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000207014.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)]

NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)

Genes:

LOC130063648:ATAC-STARR-seq lymphoblastoid active region 14063 [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.2746C>T (p.Arg916Cys)

HGVS:

NC_000019.10:g.12647517G>A
NG_008318.1:g.24261C>T
NM_000528.4:c.2746C>TMANE SELECT
NM_001173498.2:c.2743C>T
NP_000519.2:p.Arg916Cys
NP_001166969.1:p.Arg915Cys
NC_000019.9:g.12758331G>A
NM_000528.3:c.2746C>T
O00754:p.Arg916Cys

Protein change:

R915C

Links:

UniProtKB: O00754#VAR_068065; dbSNP: rs864621990

NCBI 1000 Genomes Browser:

rs864621990

Molecular consequence:

NM_000528.4:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001173498.2:c.2743C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243983	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no assertion criteria provided	Uncertain significance (Jun 7, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243983

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no assertion criteria provided

Uncertain significance
(Jun 7, 2012)

germline

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature 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. doi: 10.1002/humu.23002.

PubMed [citation]

PMID:: 22161967

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000243983.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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