NM_000528.4(MAN2B1):c.2356-2A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000478158.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2356-2A>G]

NM_000528.4(MAN2B1):c.2356-2A>G

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.2356-2A>G
HGVS:
  • NC_000019.10:g.12649218T>C
  • NG_008318.1:g.22560A>G
  • NM_000528.4:c.2356-2A>GMANE SELECT
  • NM_001173498.1:c.2353-2A>G
  • NC_000019.9:g.12760032T>C
  • NM_000528.3:c.2356-2A>G
Links:
dbSNP: rs1064793936
NCBI 1000 Genomes Browser:
rs1064793936
Molecular consequence:
  • NM_000528.4:c.2356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001173498.1:c.2353-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000567399GeneDxcriteria provided, single submitter
Pathogenic
(Aug 10, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567399.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2356-2A>G variant in the MAN2B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 19. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject tononsense-mediated mRNA decay, or to an abnormal protein product if the message is used for proteintranslation. Therefore, we interpret the c.2356-2 A>G variant in MAN2B1 as pathogenic.

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

Last Updated: Mar 7, 2021

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