NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter) AND Deficiency of alpha-mannosidase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 10, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001381974.5

Allele description [Variation Report for NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)]

NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)

Gene:

MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)

HGVS:

NC_000019.10:g.12665464_12665465delinsTT
NG_008318.1:g.6313_6314delinsAA
NG_015814.1:g.3661_3662delinsTT
NM_000528.4:c.323_324delinsAAMANE SELECT
NM_001173498.2:c.323_324delinsAA
NP_000519.2:p.Leu108Ter
NP_001166969.1:p.Leu108Ter
NC_000019.9:g.12776278_12776279delinsTT

Protein change:

L108*

Links:

dbSNP: rs2145289566

NCBI 1000 Genomes Browser:

rs2145289566

Molecular consequence:

NM_000528.4:c.323_324delinsAA - nonsense - [Sequence Ontology: SO:0001587]
NM_001173498.2:c.323_324delinsAA - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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Yarrowia lipolytica uncharacterized protein (YALI1_F25792g), partial mRNA
Yarrowia lipolytica uncharacterized protein (YALI1_F25792g), partial mRNA
gi|2801361155|ref|XM_505618.3|

Nucleotide
au96a06.x1 Schneider fetal brain 00004 Homo sapiens cDNA clone IMAGE:2784082 3' ...
au96a06.x1 Schneider fetal brain 00004 Homo sapiens cDNA clone IMAGE:2784082 3' similar to gb:X00734_cds1 TUBULIN BETA-5 CHAIN (HUMAN);contains element MSR1 repetitive element, mRNA sequence
gi|6301887|gnl|dbEST|3415443|gb|AW1 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001580551	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 10, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9915946, 22161967, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001580551

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 10, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of mutations in alpha-mannosidosis.

Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O.

Am J Hum Genet. 1999 Jan;64(1):77-88.

PubMed [citation]

PMID:: 9915946
PMCID:: PMC1377705

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

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001580551.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant has not been reported in the literature in individuals with MAN2B1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu108*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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