NM_000155.4(GALT):c.508-17G>A AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Clinical significance:Benign (Last evaluated: Nov 10, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000029811.4

Allele description [Variation Report for NM_000155.4(GALT):c.508-17G>A]

NM_000155.4(GALT):c.508-17G>A

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.508-17G>A
HGVS:
  • NC_000009.12:g.34648098G>A
  • NG_009029.2:g.6510G>A
  • NG_028966.1:g.914G>A
  • NM_000155.4:c.508-17G>AMANE SELECT
  • NM_001258332.2:c.181-17G>A
  • NC_000009.11:g.34648095G>A
  • NM_000155.1:c.508-17G>A
Links:
dbSNP: rs12000481
NCBI 1000 Genomes Browser:
rs12000481
Molecular consequence:
  • NM_000155.4:c.508-17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258332.2:c.181-17G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (GALAC1)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052466Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
benign
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link,

SCV001160074ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Oct 31, 2018)
germlineclinical testing

Citation Link,

SCV001724839Invitaecriteria provided, single submitter
Benign
(Nov 10, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
3not providednot providednot providednot providedclinical testingnot provided
4not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot providednot provided
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteGALT:c.563A>G1

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160074.1

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

From Invitae, SCV001724839.1

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

Last Updated: Nov 11, 2021

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