NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 1, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000675478.6

Allele description [Variation Report for NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)]

NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)

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.2260G>A (p.Glu754Lys)
HGVS:
  • NC_000019.10:g.12649920C>T
  • NG_008318.1:g.21858G>A
  • NM_000528.4:c.2260G>AMANE SELECT
  • NM_001173498.2:c.2257G>A
  • NP_000519.2:p.Glu754Lys
  • NP_001166969.1:p.Glu753Lys
  • NC_000019.9:g.12760734C>T
  • NM_000528.3:c.2260G>A
Protein change:
E753K
Links:
dbSNP: rs141212446
NCBI 1000 Genomes Browser:
rs141212446
Molecular consequence:
  • NM_000528.4:c.2260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.2257G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709515EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 27, 2017)
germlineclinical testing

Citation Link,

SCV000801167Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significance
(Apr 19, 2017)
unknownclinical testing

SCV001151679CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Nov 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000709515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801167.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151679.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 27, 2021

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