NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414809.1

Allele description [Variation Report for NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg)]

NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg)

Gene:
C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q12
Genomic location:
Preferred name:
NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg)
Other names:
C19ORF12, GLY69ARG
HGVS:
  • NC_000019.10:g.29702966C>T
  • NG_031970.1:g.17824G>A
  • NG_031970.2:g.17824G>A
  • NM_001031726.3:c.205G>A
  • NM_001256046.2:c.172G>A
  • NM_001256047.1:c.172G>A
  • NM_001282929.1:c.-21G>A
  • NM_001282930.2:c.-21G>A
  • NM_001282931.2:c.-21G>A
  • NM_031448.5:c.172G>A
  • NP_001026896.2:p.Gly69Arg
  • NP_001026896.2:p.Gly69Arg
  • NP_001242975.1:p.Gly58Arg
  • NP_001242976.1:p.Gly58Arg
  • NP_113636.2:p.Gly58Arg
  • NC_000019.9:g.30193873C>T
  • NM_001031726.2:c.205G>A
  • Q9NSK7:p.Gly69Arg
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
G58R; GLY69ARG
Links:
UniProtKB: Q9NSK7#VAR_066620; OMIM: 614297.0003; dbSNP: rs515726205
NCBI 1000 Genomes Browser:
rs515726205
Molecular consequence:
  • NM_001282929.1:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282930.2:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282931.2:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031726.3:c.205G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256046.2:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256047.1:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031448.5:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

Condition(s)

Name:
Dystonia
Synonyms:
Dystonic disease; Dystonic movements
Identifiers:
MONDO: MONDO:0003441; MedGen: C0013421; OMIM: PS128100; Human Phenotype Ontology: HP:0001332
Name:
Mental deterioration
Synonyms:
Cognitive decline; Intellectual deterioration; Progressive cognitive decline
Identifiers:
MedGen: C0234985; Human Phenotype Ontology: HP:0001268
Name:
Tremor
Identifiers:
MedGen: C0040822; Human Phenotype Ontology: HP:0001337
Name:
Adult-onset night blindness
Identifiers:
MedGen: C4024790; Human Phenotype Ontology: HP:0007830
Name:
Peripheral visual field loss
Synonyms:
Tunnel vision; Loss of peripheral vision
Identifiers:
MedGen: C0241688; Human Phenotype Ontology: HP:0007994

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492735Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jul 1, 2015)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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