NM_000153.4(GALC):c.943del (p.Glu315fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001093134.2

Allele description [Variation Report for NM_000153.4(GALC):c.943del (p.Glu315fs)]

NM_000153.4(GALC):c.943del (p.Glu315fs)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.943del (p.Glu315fs)
HGVS:
  • NC_000014.9:g.87965595del
  • NG_011853.2:g.32969del
  • NG_011853.3:g.32969del
  • NM_000153.4:c.943delMANE SELECT
  • NM_001201401.2:c.874del
  • NM_001201402.2:c.865del
  • NP_000144.2:p.Glu315fs
  • NP_001188330.1:p.Glu292fs
  • NP_001188331.1:p.Glu289fs
  • NC_000014.8:g.88431939del
Protein change:
E289fs
Molecular consequence:
  • NM_000153.4:c.943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201401.2:c.874del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201402.2:c.865del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001249966CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Apr 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249966.6

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

Last Updated: Oct 24, 2021

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