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NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 22, 2016
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:
RCV000404302.4

Allele description [Variation Report for NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)]

NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
HGVS:
  • NC_000009.12:g.34648826_34648827delinsCT
  • NG_009029.2:g.7238_7239delinsCT
  • NG_028966.1:g.1642_1643delinsCT
  • NM_000155.4:c.752_753delinsCTMANE SELECT
  • NM_001258332.2:c.425_426delinsCT
  • NP_000146.2:p.Tyr251Ser
  • NP_001245261.1:p.Tyr142Ser
  • NC_000009.11:g.34648823_34648824delACinsCT
  • NC_000009.11:g.34648823_34648824delinsCT
Protein change:
Y142S
Links:
dbSNP: rs886043390
NCBI 1000 Genomes Browser:
rs886043390
Molecular consequence:
  • NM_000155.4:c.752_753delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.425_426delinsCT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000339869Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely pathogenic
(Feb 22, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD.

Hum Mutat. 1999;13(6):417-30. Review.

PubMed [citation]
PMID:
10408771

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

Genet Med. 1998 Nov-Dec;1(1):40-8. Review.

PubMed [citation]
PMID:
11261429
See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000339869.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024