NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr) 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:: RCV000224516.1

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr)]

NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr)

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.3068T>C (p.Met1023Thr)

HGVS:

NC_000018.10:g.10762977A>G
NG_034005.1:g.390786T>C
NM_001378183.1:c.3068T>CMANE SELECT
NM_022068.4:c.2993T>C
NP_001365112.1:p.Met1023Thr
NP_071351.2:p.Met998Thr
NC_000018.9:g.10762975A>G
NM_022068.2:c.2993T>C

Protein change:

M1023T

Links:

dbSNP: rs878853140

NCBI 1000 Genomes Browser:

rs878853140

Molecular consequence:

NM_001378183.1:c.3068T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022068.4:c.2993T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281722	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Pathogenic (Jun 4, 2014)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281722

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Pathogenic
(Jun 4, 2014)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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, SCV000281722.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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