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NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile) AND Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 2014
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:
RCV000224177.1

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)]

NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)

Gene:
PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)
HGVS:
  • NC_000018.10:g.10696263G>A
  • NG_034005.1:g.457500C>T
  • NM_001378183.1:c.7001C>TMANE SELECT
  • NM_022068.4:c.6662C>T
  • NP_001365112.1:p.Thr2334Ile
  • NP_071351.2:p.Thr2221Ile
  • NC_000018.9:g.10696261G>A
  • NM_022068.2:c.6662C>T
Protein change:
T2221I
Links:
dbSNP: rs878853139
NCBI 1000 Genomes Browser:
rs878853139
Molecular consequence:
  • NM_001378183.1:c.7001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022068.4:c.6662C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Synonyms:
ARTHROGRYPOSIS, DISTAL, TYPE 5; ARTHROGRYPOSIS, DISTAL, TYPE IIB; Oculomelic amyoplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007158; MedGen: C1862472; Orphanet: 1154; OMIM: 108145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281721University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Pathogenic
(Jun 4, 2014) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, et al.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

PubMed [citation]
PMID:
24726473
PMCID:
PMC4067551

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000281721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022