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NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) AND Parkinson disease 11, autosomal dominant, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000000791.5

Allele description [Variation Report for NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)]

NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)

Gene:
GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)
HGVS:
  • NC_000002.12:g.232809731C>G
  • NG_011847.1:g.117427C>G
  • NM_001103146.3:c.1818C>GMANE SELECT
  • NM_001103147.2:c.1881C>G
  • NM_001103148.2:c.1800C>G
  • NM_015575.4:c.1818C>G
  • NP_001096616.1:p.Asp606Glu
  • NP_001096617.1:p.Asp627Glu
  • NP_001096618.1:p.Asp600Glu
  • NP_056390.2:p.Asp606Glu
  • NC_000002.11:g.233674441C>G
  • NR_103492.1:n.1931C>G
  • Q6Y7W6:p.Asp606Glu
Protein change:
D600E; ASP606GLU
Links:
UniProtKB: Q6Y7W6#VAR_044445; OMIM: 612003.0003; dbSNP: rs118203903
NCBI 1000 Genomes Browser:
rs118203903
Molecular consequence:
  • NM_001103146.3:c.1818C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001103147.2:c.1881C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001103148.2:c.1800C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015575.4:c.1818C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103492.1:n.1931C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Parkinson disease 11, autosomal dominant, susceptibility to
Synonyms:
Parkinson disease 11
Identifiers:
MONDO: MONDO:0011896; MedGen: C4083045; Orphanet: 411602; OMIM: 607688

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020941OMIM
no assertion criteria provided
risk factor
(Apr 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG, Pezzoli G, Brice A, Smith RJ.

Am J Hum Genet. 2008 Apr;82(4):822-33. doi: 10.1016/j.ajhg.2008.01.015. Epub 2008 Mar 20.

PubMed [citation]
PMID:
18358451
PMCID:
PMC2427211

Details of each submission

From OMIM, SCV000020941.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a French mother and son with Parkinson disease-11 (PARK11; 607688), Lautier et al. (2008) identified a heterozygous 1818C-G transversion in exon 14 of the GIGYF2 gene, resulting in an asp606-to-glu (D606E) substitution in a highly conserved region. Disease onset was at ages 83 and 42, respectively. A maternal aunt, who was deceased, was reportedly affected.

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

Last Updated: Apr 23, 2022