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NM_000155.3(GALT):c.396C>A (p.His132Gln)

Variation ID: Help
25170
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Sep 25, 2015
Number of submission(s):
2
Condition(s):
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000155.3(GALT):c.396C>A (p.His132Gln)

Allele ID:
36504
Variant type:
single nucleotide variant
Cytogenetic location:
9p13
Genomic location:
  • Chr9: 34647850 (on Assembly GRCh38)
  • Chr9: 34647847 (on Assembly GRCh37)
Protein change:
H132Q
HGVS:
  • NG_009029.2:g.6262C>A
  • NM_000155.3:c.396C>A
  • NP_000146.2:p.His132Gln
  • NC_000009.12:g.34647850C>A (GRCh38)
  • NC_000009.11:g.34647847C>A (GRCh37)
  • M60091.1:c.396C>A
  • P07902:p.His132Gln
Links:
NCBI 1000 Genomes Browser:
rs367543256
Molecular consequence:
NM_000155.3:c.396C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00000

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Sep 25, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331067.4
Pathogenic
(Dec 4, 2012)
no assertion criteria providedclinical testing
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase[MedGen | Orphanet | OMIM]
not provided
    ARUP Institute,ARUP LaboratoriesSCV000042779.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germline, not providednot providednot provided
    ARUP Institute,ARUP Laboratoriesnot providednot providednot providednot providednot providednot providedConverted during submission to…Full description
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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