NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) AND Flexion contracture

Germline classification:: Uncertain significance (1 submission)
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:: RCV001007781.2

Allele description [Variation Report for NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)]

NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)

Gene:

MYO9A:myosin IXA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)

HGVS:

NC_000015.10:g.72045956T>C
NM_006901.4:c.608A>GMANE SELECT
NP_008832.2:p.Tyr203Cys
NC_000015.9:g.72338297T>C
NM_006901.1:c.608A>G
NM_006901.3:c.608A>G

Protein change:

Y203C; TYR203CYS

Links:

OMIM: 604875.0002; dbSNP: rs374155761

NCBI 1000 Genomes Browser:

rs374155761

Molecular consequence:

NM_006901.4:c.608A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Flexion contracture
Synonyms:: Contracture; Contractures; Flexion deformity
Identifiers:: MedGen: C0333068; Human Phenotype Ontology: HP:0001371

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167465	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Uncertain significance	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167465

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Uncertain significance

inherited

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	inherited	yes	4	1	not provided	not provided	yes	research

Citations

PubMed

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, et al.

J Clin Invest. 2016 Feb;126(2):762-78. doi: 10.1172/JCI84457. Epub 2016 Jan 11.

PubMed [citation]

PMID:: 26752647
PMCID:: PMC4731160

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167465.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	yes	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		4	not provided	1	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine