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NM_000155.4(GALT):c.1052del (p.Pro351fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2015
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:
RCV000723535.5

Allele description [Variation Report for NM_000155.4(GALT):c.1052del (p.Pro351fs)]

NM_000155.4(GALT):c.1052del (p.Pro351fs)

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.1052del (p.Pro351fs)
HGVS:
  • NC_000009.12:g.34649557del
  • NG_009029.2:g.7969del
  • NG_028966.1:g.2373del
  • NM_000155.4:c.1052delMANE SELECT
  • NM_001258332.2:c.725del
  • NP_000146.2:p.Pro351fs
  • NP_001245261.1:p.Pro242fs
  • NC_000009.11:g.34649551del
  • NC_000009.11:g.34649554del
  • NM_000155.2:c.1052delC
  • NM_000155.3:c.1052delC
Protein change:
P242fs
Links:
dbSNP: rs111033813
NCBI 1000 Genomes Browser:
rs111033813
Molecular consequence:
  • NM_000155.4:c.1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258332.2:c.725del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224783Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(May 28, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224783.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 15, 2024