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NM_006208.2(ENPP1):c.913C>A (p.Pro305Thr)

Variation ID: Help
29842
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(3);Uncertain significance(1)
Last evaluated:
Jun 14, 2016
Number of submission(s):
4
Condition(s):
  • Arterial calcification of infancy [MedGen - OMIM]
  • Hypophosphatemic Rickets, Recessive [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_006208.2(ENPP1):c.913C>A (p.Pro305Thr)

Allele ID:
38797
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.2
Genomic location:
  • Chr6: 131860504 (on Assembly GRCh38)
  • Chr6: 132181644 (on Assembly GRCh37)
Protein change:
P305T
HGVS:
  • NG_008206.1:g.57489C>A
  • NM_006208.2:c.913C>A
  • NP_006199.2:p.Pro305Thr
  • NC_000006.12:g.131860504C>A (GRCh38)
  • NC_000006.11:g.132181644C>A (GRCh37)
  • P22413:p.Pro305Thr
Links:
NCBI 1000 Genomes Browser:
rs374270497
Molecular consequence:
NM_006208.2:c.913C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00008 (A)
  • ExAC 0.00001 (A)

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Hypophosphatemic Rickets, Recessive[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000460149.2
    Pathogenic
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000460151.2
    Pathogenic
    (Dec 1, 2008)
    no assertion criteria providedliterature onlygermlineOMIMSCV000044009.2
    Pathogenic
    (Aug 22, 2014)
    no assertion criteria providedliterature onlygermlineGeneReviewsSCV000195559.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneReviewsnot providednot providedgermlinenot providednot providednot provided
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.913C>A (p.Pro305Thr) var…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jan 7, 2018