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NM_000155.4(GALT):c.779_790del (p.His260_Arg263del) AND Galactosemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 29, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001826499.9

Allele description [Variation Report for NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)]

NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)
Other names:
H260_R263del
HGVS:
  • NC_000009.12:g.34648853_34648864del
  • NG_009029.2:g.7265_7276del
  • NG_028966.1:g.1669_1680del
  • NM_000155.4:c.779_790delMANE SELECT
  • NM_001258332.2:c.452_463del
  • NP_000146.2:p.His260_Arg263del
  • NP_000146.2:p.His260_Arg263del
  • NP_001245261.1:p.His151_Arg154del
  • NC_000009.11:g.34648850_34648861del
  • NM_000155.2:c.779_790del12
Links:
dbSNP: rs111033762
NCBI 1000 Genomes Browser:
rs111033762
Molecular consequence:
  • NM_000155.4:c.779_790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258332.2:c.452_463del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Galactosemia
Synonyms:
Galactose intolerance
Identifiers:
MONDO: MONDO:0018116; MedGen: C0016952; OMIM: PS230400; Human Phenotype Ontology: HP:0004919

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002085234Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jul 29, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002085234.1

#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 30, 2024