NM_000153.4(GALC):c.1158_1161+6del AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Feb 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000513102.4

Allele description [Variation Report for NM_000153.4(GALC):c.1158_1161+6del]

NM_000153.4(GALC):c.1158_1161+6del

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1158_1161+6del
HGVS:
  • NC_000014.9:g.87963382_87963391del
  • NG_011853.2:g.35177_35186del
  • NG_011853.3:g.35177_35186del
  • NM_000153.4:c.1158_1161+6delMANE SELECT
  • NM_001201401.2:c.1089_1092+6del
  • NM_001201402.2:c.1080_1083+6del
  • NC_000014.8:g.88429726_88429735del
  • NM_000153.3:c.1158_1161+6del
  • NM_000153.3:c.1158_1161+6del10
Links:
dbSNP: rs759068540
NCBI 1000 Genomes Browser:
rs759068540
Molecular consequence:
  • NM_000153.4:c.1158_1161+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001201401.2:c.1089_1092+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001201402.2:c.1080_1083+6del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000608710CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Feb 1, 2017)
germlineclinical testing

Citation Link,

SCV000701445EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 17, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000608710.11

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701445.2

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

Last Updated: Oct 24, 2021

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