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NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 2022
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:
RCV003224865.3

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)]

NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)

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.8396G>A (p.Arg2799His)
Other names:
NM_001378183.1(PIEZO2):c.8396G>A; p.Arg2799His
HGVS:
  • NC_000018.10:g.10671729C>T
  • NG_034005.1:g.482034G>A
  • NM_001378183.1:c.8396G>AMANE SELECT
  • NM_022068.4:c.8057G>A
  • NP_001365112.1:p.Arg2799His
  • NP_071351.2:p.Arg2686His
  • NC_000018.9:g.10671726C>T
  • NM_022068.2:c.8057G>A
  • NM_022068.3:c.8057G>A
  • Q9H5I5:p.Arg2686His
Protein change:
R2686H; ARG2686HIS
Links:
UniProtKB: Q9H5I5#VAR_071303; OMIM: 613629.0003; dbSNP: rs587777450
NCBI 1000 Genomes Browser:
rs587777450
Molecular consequence:
  • NM_001378183.1:c.8396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022068.4:c.8057G>A - 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
Name:
Gordon syndrome (DA3)
Synonyms:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA; Arthrogryposis distal type 3; Arthrogryposis multiplex congenita distal type 2a; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007252; MedGen: C0220666; Orphanet: 376; OMIM: 114300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920962Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 26, 2022) 		de novoclinical testing

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 providedclinical testing

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV003920962.1

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

Last Updated: Oct 20, 2024