NM_000153.4(GALC):c.328+19T>A AND not provided

Clinical significance:Benign (Last evaluated: Mar 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675266.3

Allele description [Variation Report for NM_000153.4(GALC):c.328+19T>A]

NM_000153.4(GALC):c.328+19T>A

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.328+19T>A
HGVS:
  • NC_000014.9:g.87988125A>T
  • NG_011853.2:g.10439T>A
  • NM_000153.4:c.328+19T>AMANE SELECT
  • NM_001201401.1:c.259+19T>A
  • NM_001201402.1:c.250+19T>A
  • NC_000014.8:g.88454469A>T
  • NM_000153.3:c.328+19T>A
Links:
dbSNP: rs74337989
NCBI 1000 Genomes Browser:
rs74337989
Molecular consequence:
  • NM_000153.4:c.328+19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001201401.1:c.259+19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001201402.1:c.250+19T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800915Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Oct 26, 2015)
unknownclinical testing

SCV001873291GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800915.1

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

From GeneDx, SCV001873291.1

#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: Oct 6, 2021

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