NM_000155.4(GALT):c.253-2A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 26, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000185912.3

Allele description [Variation Report for NM_000155.4(GALT):c.253-2A>G]

NM_000155.4(GALT):c.253-2A>G

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.253-2A>G
HGVS:
  • NC_000009.12:g.34647490A>G
  • NG_009029.2:g.5902A>G
  • NG_028966.1:g.306A>G
  • NM_000155.4:c.253-2A>GMANE SELECT
  • NM_001258332.2:c.50+232A>G
  • NC_000009.11:g.34647487A>G
  • NM_000155.2:c.253-2A>G
  • NM_000155.3:c.253-2A>G
Links:
Genetic Testing Registry (GTR): GTR000500512; dbSNP: rs111033661
NCBI 1000 Genomes Browser:
rs111033661
Molecular consequence:
  • NM_001258332.2:c.50+232A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000155.4:c.253-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228800EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 23, 2015)
germlineclinical testing

Citation Link,

SCV000238865GeneDxcriteria provided, single submitter
Pathogenic
(Apr 26, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228800.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV000238865.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.253-2A>G splice site mutation in the GALT gene has been previously reported in Hispanic individuals with galactosemia (Yang et al., 2002). This mutation destroys the canonical splice acceptor site in intron 2, and is expected to cause abnormal gene splicing. We interpret c.253-2 A>G to be a pathogenic mutation.The variant is found in GALT panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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