NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs) AND Deficiency of alpha-mannosidase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 1, 2022
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:: RCV002309488.2

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)]

NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)

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.1139_1141delinsT (p.Tyr380fs)

HGVS:

NC_000019.10:g.12658313_12658315delinsA
NG_008318.1:g.13463_13465delinsT
NM_000528.4:c.1139_1141delinsTMANE SELECT
NM_001173498.2:c.1136_1138delinsT
NP_000519.2:p.Tyr380fs
NP_001166969.1:p.Tyr379fs
NC_000019.9:g.12769127_12769129delinsA

Protein change:

Y379fs

Molecular consequence:

NM_000528.4:c.1139_1141delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001173498.2:c.1136_1138delinsT - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002603866	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Apr 1, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603866

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Apr 1, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603866.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_000528.3(MAN2B1):c.1139_1141delACGinsT(Y380Ffs*58) is expected to be pathogenic in the context of alpha-mannosidosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MAN2B1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Sep 16, 2024

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