NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) AND Deficiency of alpha-mannosidase

Clinical significance:Likely pathogenic (Last evaluated: Sep 29, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001264252.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)]

NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)

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.953C>A (p.Ser318Ter)
HGVS:
  • NC_000019.10:g.12661333G>T
  • NG_008318.1:g.10445C>A
  • NM_000528.4:c.953C>AMANE SELECT
  • NM_001173498.2:c.953C>A
  • NP_000519.2:p.Ser318Ter
  • NP_001166969.1:p.Ser318Ter
  • NC_000019.9:g.12772147G>T
Protein change:
S318*
Molecular consequence:
  • NM_000528.4:c.953C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173498.2:c.953C>A - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001442355Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Sep 29, 2019)
unknownclinical testing

Citation Link

Description

NM_000528.3(MAN2B1):c.953C>A(S318*) 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.

SCV001442355

Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001442355.1

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

Last Updated: Jan 25, 2021

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