NM_000920.3(PC):c.1181T>C (p.Ile394Thr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000433773.1

Allele description [Variation Report for NM_000920.3(PC):c.1181T>C (p.Ile394Thr)]

NM_000920.3(PC):c.1181T>C (p.Ile394Thr)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.1181T>C (p.Ile394Thr)
HGVS:
  • NC_000011.10:g.66866191A>G
  • NG_008319.1:g.97186T>C
  • NM_000920.3:c.1181T>C
  • NM_001040716.1:c.1181T>C
  • NP_000911.2:p.Ile394Thr
  • NP_001035806.1:p.Ile394Thr
  • NC_000011.9:g.66633662A>G
Protein change:
I394T
Links:
dbSNP: rs1057520687
NCBI 1000 Genomes Browser:
rs1057520687
Molecular consequence:
  • NM_001040716.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000516991GeneDxcriteria provided, single submitter
Likely pathogenic
(Feb 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000516991.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The I394T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I394T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I394T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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