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NM_000155.4(GALT):c.561C>A (p.Cys187Ter) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 8, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001263988.4

Allele description [Variation Report for NM_000155.4(GALT):c.561C>A (p.Cys187Ter)]

NM_000155.4(GALT):c.561C>A (p.Cys187Ter)

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.561C>A (p.Cys187Ter)
HGVS:
  • NC_000009.12:g.34648168C>A
  • NG_009029.2:g.6580C>A
  • NG_028966.1:g.984C>A
  • NM_000155.4:c.561C>AMANE SELECT
  • NM_001258332.2:c.234C>A
  • NP_000146.2:p.Cys187Ter
  • NP_001245261.1:p.Cys78Ter
  • NC_000009.11:g.34648165C>A
Protein change:
C187*
Links:
dbSNP: rs1821157539
NCBI 1000 Genomes Browser:
rs1821157539
Molecular consequence:
  • NM_000155.4:c.561C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258332.2:c.234C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442086Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))		Likely pathogenic
(Dec 8, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV001442086.1

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

Last Updated: May 7, 2024