NM_000920.3(PC):c.1167G>A (p.Pro389=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000425550.1

Allele description [Variation Report for NM_000920.3(PC):c.1167G>A (p.Pro389=)]

NM_000920.3(PC):c.1167G>A (p.Pro389=)

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.1167G>A (p.Pro389=)
HGVS:
  • NC_000011.10:g.66866205C>T
  • NG_008319.1:g.97172G>A
  • NM_000920.3:c.1167G>A
  • NM_001040716.1:c.1167G>A
  • NP_000911.2:p.Pro389=
  • NP_001035806.1:p.Pro389=
  • NC_000011.9:g.66633676C>T
Links:
dbSNP: rs556534486
NCBI 1000 Genomes Browser:
rs556534486
Molecular consequence:
  • NM_001040716.1:c.1167G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000515983GeneDxcriteria provided, single submitter
Likely benign
(Jul 25, 2016)
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, SCV000515983.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Mar 30, 2019

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