NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 6, 2017)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675479.5

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)]

NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)

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.1581G>A (p.Arg527=)
HGVS:
  • NC_000019.10:g.12656634C>T
  • NG_008318.1:g.15144G>A
  • NM_000528.4:c.1581G>AMANE SELECT
  • NM_001173498.2:c.1578G>A
  • NP_000519.2:p.Arg527=
  • NP_001166969.1:p.Arg526=
  • NC_000019.9:g.12767448C>T
  • NM_000528.3:c.1581G>A
Links:
dbSNP: rs149613968
NCBI 1000 Genomes Browser:
rs149613968
Molecular consequence:
  • NM_000528.4:c.1581G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173498.2:c.1578G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801169Mayo Clinic Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Dec 6, 2017)
unknownclinical testing

SCV001973392Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories,Mayo Clinic, SCV000801169.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001973392.1

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

Last Updated: Dec 2, 2021

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