NM_000920.3(PC):c.3391G>A (p.Val1131Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 16, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000676956.1

Allele description [Variation Report for NM_000920.3(PC):c.3391G>A (p.Val1131Met)]

NM_000920.3(PC):c.3391G>A (p.Val1131Met)

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.3391G>A (p.Val1131Met)
HGVS:
  • NC_000011.10:g.66849045C>T
  • NG_008319.1:g.114332G>A
  • NM_000920.3:c.3391G>A
  • NM_001040716.1:c.3391G>A
  • NP_000911.2:p.Val1131Met
  • NP_001035806.1:p.Val1131Met
  • NC_000011.9:g.66616516C>T
Protein change:
V1131M
Links:
dbSNP: rs116518022
NCBI 1000 Genomes Browser:
rs116518022
Molecular consequence:
  • NM_001040716.1:c.3391G>A - 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
SCV000802782Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedUncertain significance
(Mar 16, 2016)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802782.1

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

Last Updated: Mar 30, 2019

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