NM_000153.4(GALC):c.1586C>T (p.Thr529Met) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 30, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV001093133.5

Allele description [Variation Report for NM_000153.4(GALC):c.1586C>T (p.Thr529Met)]

NM_000153.4(GALC):c.1586C>T (p.Thr529Met)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
HGVS:
  • NC_000014.9:g.87945637G>A
  • NG_011853.2:g.52927C>T
  • NG_011853.3:g.52927C>T
  • NM_000153.4:c.1586C>TMANE SELECT
  • NM_001201401.2:c.1517C>T
  • NM_001201402.2:c.1508C>T
  • NP_000144.2:p.Thr529Met
  • NP_001188330.1:p.Thr506Met
  • NP_001188331.1:p.Thr503Met
  • NC_000014.8:g.88411981G>A
  • NM_000153.3:c.1586C>T
Protein change:
T503M
Links:
dbSNP: rs200960659
NCBI 1000 Genomes Browser:
rs200960659
Molecular consequence:
  • NM_000153.4:c.1586C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201401.2:c.1517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201402.2:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV001249965CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Nov 1, 2017)
germlineclinical testing

Citation Link,

SCV001449967Clinical Genetics Karolinska University Hospital,Karolinska University Hospitalcriteria provided, single submitter
Pathogenic
(Oct 30, 2019)
germlineclinical testing

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

SCV001951770Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001964648Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV002021225PerkinElmer Genomicsno assertion criteria providedPathogenic
(Mar 14, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249965.6

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

From Clinical Genetics Karolinska University Hospital,Karolinska University Hospital, SCV001449967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001951770.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001964648.1

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

From PerkinElmer Genomics, SCV002021225.1

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

Last Updated: Nov 28, 2021

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