NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001696924.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)]

NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)

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.1822G>A (p.Glu608Lys)
HGVS:
  • NC_000019.10:g.12655702C>T
  • NG_008318.1:g.16076G>A
  • NM_000528.4:c.1822G>AMANE SELECT
  • NM_001173498.2:c.1819G>A
  • NP_000519.2:p.Glu608Lys
  • NP_001166969.1:p.Glu607Lys
  • NC_000019.9:g.12766516C>T
  • NM_000528.3:c.1822G>A
Protein change:
E607K
Links:
dbSNP: rs145062583
NCBI 1000 Genomes Browser:
rs145062583
Molecular consequence:
  • NM_000528.4:c.1822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173498.2:c.1819G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000620699GeneDxcriteria provided, single submitter
Likely benign
(Dec 13, 2018)
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, SCV000620699.2

#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: Nov 20, 2021

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