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NM_000478.5(ALPL):c.746G>T (p.Gly249Val)

Variation ID: Help
13682
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000478.5(ALPL):c.746G>T (p.Gly249Val)

Allele ID:
28721
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 21568201 (on Assembly GRCh38)
  • Chr1: 21894694 (on Assembly GRCh37)
Protein change:
G232V, G249V
HGVS:
  • NG_008940.1:g.63837G>T
  • NM_000478.5:c.746G>T
  • NP_000469.3:p.Gly249Val
  • NC_000001.11:g.21568201G>T (GRCh38)
  • NC_000001.10:g.21894694G>T (GRCh37)
  • NM_000478.4:c.746G>T
  • P05186:p.Gly249Val
Links:
NCBI 1000 Genomes Browser:
rs121918018
Molecular consequence:
NM_000478.5:c.746G>T: missense variant [Sequence Ontology SO:0001583]

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
Pathogenic
(Nov 17, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000331378.3
Uncertain significance
(Jun 29, 2017)
criteria provided, single submitter
clinical testingunknownCounsylSCV000792540.1
Pathogenic
(May 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000034930.1
Pathogenic
(May 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000034931.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germline, unknownnot providednot provided
Counsylnot providednot providedunknownnot providednot providednot provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 23, 2018