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NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND Schizophrenia

Germline classification:
Benign (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003633479.1

Allele description [Variation Report for NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)]

NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)

Gene:
ANKK1:ankyrin repeat and kinase domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.2
Genomic location:
Preferred name:
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)
Other names:
ANKK1, GLU713LYS (rs1800497)
HGVS:
  • NC_000011.10:g.113400106G>A
  • NG_012976.1:g.17316G>A
  • NM_178510.2:c.2137G>AMANE SELECT
  • NP_848605.1:p.Glu713Lys
  • NC_000011.9:g.113270828G>A
  • NM_178510.1:c.2137G>A
  • Q8NFD2:p.Glu713Lys
Protein change:
E713K; GLU713LYS
Links:
PharmGKB Clinical Annotation: 655385422; PharmGKB Clinical Annotation: 655385495; PharmGKB Clinical Annotation: 981204890; UniProtKB: Q8NFD2#VAR_025010; OMIM: 608774.0001; dbSNP: rs1800497
NCBI 1000 Genomes Browser:
rs1800497
Molecular consequence:
  • NM_178510.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Schizophrenia (SCZD)
Identifiers:
MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004543738Center for Forensic Mental Health, Chiba University
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
EastAsiagermlinenonot providednot providednot providednot providednot providedcase-control

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 Center for Forensic Mental Health, Chiba University, SCV004543738.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1EastAsianot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024