NM_005002.4(NDUFA9):c.881C>T (p.Pro294Leu)

NM_005002.4(NDUFA9):c.881C>T (p.Pro294Leu)

Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
  • Chr12:4682285 (on Assembly GRCh38)
  • Chr12:4791451 (on Assembly GRCh37)
Protein change:
P294L
HGVS:
  • NG_032124.1:g.38188C>T
  • NM_005002.4:c.881C>T
  • NC_000012.12:g.4682285C>T (GRCh38)
  • NP_004993.1:p.Pro294Leu
  • NC_000012.11:g.4791451C>T (GRCh37)
Links:
dbSNP: 34076756
NCBI 1000 Genomes Browser:
rs34076756
Molecular consequence:
NM_005002.4:c.881C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.01676 (T)
  • GMAF 0.00980 (T)

Clinical significance

NM_005002.4(NDUFA9):c.881C>T (p.Pro294Leu)

Clinical significance:
Benign/Likely benign
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Number of submission(s):
2
Condition(s)
    See supporting ClinVar records

    1 Affected gene

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    Recent activity

    Assertion and evidence details

    Germline

    Clinical significance
    (Last evaluated)
    Review status
    (Assertion method)
    Collection methodCondition(s)
    (Mode of inheritance)
    OriginCitationsSubmitter - Study name
    (Last submitted)
    Submission accession
    Benign
    (Jul 9, 2013)
    criteria provided, single submitter
    (GeneDx Variant Classification (06012015))
    clinical testinggermline

    Citation link

    GeneDx

    (Jun 10, 2014)

    SCV000170668
    Likely benignno assertion criteria providedclinical testing
    • not specified (Autosomal recessive inheritance)[MedGen]
    germlineGenetic Services Laboratory, University of Chicago

    (Jun 27, 2014)

    SCV000151948
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot provided
    Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
    GeneDxgermlinenot providednot provided (unknown)not providednot providedThe variant is found in ,NDUFA9 panel(s).
    Genetic Services Laboratory, University of Chicagogermlinenot providednot specified (unknown)not providednot providednot providedLikely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated diseaseā€¦Full description

    Last Updated: Jul 26, 2015