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NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) AND Polymicrogyria, bilateral frontoparietal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2004
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:
RCV000006187.4

Allele description

NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)

Gene:
ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)
HGVS:
  • NC_000016.10:g.57661707C>T
  • NG_011643.1:g.46710C>T
  • NM_001145770.3:c.1675C>T
  • NM_001145771.3:c.1693C>T
  • NM_001145772.3:c.1675C>T
  • NM_001145773.3:c.1690C>T
  • NM_001145774.3:c.1675C>T
  • NM_001290142.2:c.1183C>T
  • NM_001290143.2:c.1168C>T
  • NM_001290144.2:c.1150C>T
  • NM_001370428.1:c.1693C>T
  • NM_001370429.1:c.1693C>T
  • NM_001370430.1:c.1693C>T
  • NM_001370431.1:c.1693C>T
  • NM_001370432.1:c.1693C>T
  • NM_001370433.1:c.1690C>T
  • NM_001370434.1:c.1690C>T
  • NM_001370435.1:c.1675C>T
  • NM_001370436.1:c.1675C>T
  • NM_001370437.1:c.1675C>T
  • NM_001370438.1:c.1675C>T
  • NM_001370439.1:c.1675C>T
  • NM_001370440.1:c.1675C>T
  • NM_001370441.1:c.1672C>T
  • NM_001370442.1:c.1519C>T
  • NM_001370451.1:c.1150C>T
  • NM_001370453.1:c.1150C>T
  • NM_001370454.1:c.1150C>T
  • NM_005682.7:c.1693C>T
  • NM_201524.4:c.1675C>T
  • NM_201525.4:c.1675C>TMANE SELECT
  • NP_001139242.1:p.Arg559Trp
  • NP_001139243.1:p.Arg565Trp
  • NP_001139244.1:p.Arg559Trp
  • NP_001139245.1:p.Arg564Trp
  • NP_001139246.1:p.Arg559Trp
  • NP_001277071.1:p.Arg395Trp
  • NP_001277072.1:p.Arg390Trp
  • NP_001277073.1:p.Arg384Trp
  • NP_001357357.1:p.Arg565Trp
  • NP_001357358.1:p.Arg565Trp
  • NP_001357359.1:p.Arg565Trp
  • NP_001357360.1:p.Arg565Trp
  • NP_001357361.1:p.Arg565Trp
  • NP_001357362.1:p.Arg564Trp
  • NP_001357363.1:p.Arg564Trp
  • NP_001357364.1:p.Arg559Trp
  • NP_001357365.1:p.Arg559Trp
  • NP_001357366.1:p.Arg559Trp
  • NP_001357367.1:p.Arg559Trp
  • NP_001357368.1:p.Arg559Trp
  • NP_001357369.1:p.Arg559Trp
  • NP_001357370.1:p.Arg558Trp
  • NP_001357371.1:p.Arg507Trp
  • NP_001357380.1:p.Arg384Trp
  • NP_001357382.1:p.Arg384Trp
  • NP_001357383.1:p.Arg384Trp
  • NP_005673.3:p.Arg565Trp
  • NP_958932.1:p.Arg559Trp
  • NP_958933.1:p.Arg559Trp
  • NC_000016.9:g.57695619C>T
  • NM_005682.5:c.1693C>T
  • NM_005682.6:c.1693C>T
  • Q9Y653:p.Arg565Trp
Protein change:
R384W; ARG565TRP
Links:
UniProtKB: Q9Y653#VAR_026246; OMIM: 604110.0006; dbSNP: rs121908464
NCBI 1000 Genomes Browser:
rs121908464
Molecular consequence:
  • NM_001145770.3:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145771.3:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145772.3:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145773.3:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145774.3:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290142.2:c.1183C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290143.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290144.2:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370428.1:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370429.1:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370430.1:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370431.1:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370432.1:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370433.1:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370434.1:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370435.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370436.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370437.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370438.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370439.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370440.1:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370441.1:c.1672C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370442.1:c.1519C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370451.1:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370453.1:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370454.1:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005682.7:c.1693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201524.4:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201525.4:c.1675C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Polymicrogyria, bilateral frontoparietal (BFPP)
Synonyms:
CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT
Identifiers:
MONDO: MONDO:0011738; MedGen: C1847352; OMIM: 606854

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026369OMIM
no assertion criteria provided
Pathogenic
(Mar 26, 2004) 		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

G protein-coupled receptor-dependent development of human frontal cortex.

Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA.

Science. 2004 Mar 26;303(5666):2033-6.

PubMed [citation]
PMID:
15044805

Details of each submission

From OMIM, SCV000026369.3

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

Description

In a large consanguineous Bedouin family with bilateral frontoparietal polymicrogyria (BFPP; 606854), Piao et al. (2004) identified a homozygous C-to-T transition at nucleotide 1693 of the GPR56 gene, resulting in an arginine-to-tryptophan substitution at codon 565 (R565W). This pedigree consisted of 2 nuclear families that were distant related to one another; the 2 affected individuals from the first family had first-cousin parents, and the 1 affected individual from the second family had consanguineous parents whose exact relationship was unknown.

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

Last Updated: Jan 26, 2022