NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg) AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Uncertain significance (Last evaluated: May 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001030029.1

Allele description [Variation Report for NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg)]

NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg)
HGVS:
  • NC_000014.9:g.87992977_87992978insGCT
  • NG_011853.2:g.5586_5587insAGC
  • NG_011853.3:g.5586_5587insAGC
  • NM_000153.4:c.187_188insAGCMANE SELECT
  • NM_001201401.1:c.187_188insAGC
  • NM_001201402.1:c.117+405_117+406insAGC
  • NP_000144.2:p.Gly63delinsGluArg
  • NP_001188330.1:p.Gly63delinsGluArg
  • NC_000014.8:g.88459321_88459322insGCT
  • NM_000153.3:c.187_188insAGC
Links:
dbSNP: rs1595245961
NCBI 1000 Genomes Browser:
rs1595245961
Molecular consequence:
  • NM_000153.4:c.187_188insAGC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001201401.1:c.187_188insAGC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001201402.1:c.117+405_117+406insAGC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Galactosylceramide beta-galactosidase deficiency
Synonyms:
Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190545The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan Universitycriteria provided, single submitter
Uncertain significance
(May 10, 2019)
maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University, SCV001190545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2020

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