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

Recent activity

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ZNF684 zinc finger protein 684 [Homo sapiens]
ZNF684 zinc finger protein 684 [Homo sapiens]
Gene ID:127396

Gene
127396[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920962	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 26, 2022)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003920962

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 26, 2022)

de novo

clinical testing

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	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Oct 20, 2024

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