NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) AND Arthrogryposis multiplex congenita

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2014
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:: RCV000172977.1

Allele description [Variation Report for NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)]

NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)

Gene:

ADGRG6:adhesion G protein-coupled receptor G6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.2

Genomic location:

Preferred name:

NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)

HGVS:

NC_000006.12:g.142309560C>T
NG_011839.1:g.12642C>T
NM_001032394.3:c.19C>T
NM_001032395.3:c.19C>T
NM_020455.6:c.19C>T
NM_198569.3:c.19C>TMANE SELECT
NP_001027566.2:p.Arg7Ter
NP_001027567.2:p.Arg7Ter
NP_065188.5:p.Arg7Ter
NP_940971.2:p.Arg7Ter
NC_000006.11:g.142630697C>T
NM_001032394.1:c.19C>T
NM_198569.2:c.19C>T

Protein change:

R7*; ARG7TER

Links:

OMIM: 612243.0001; dbSNP: rs749355583

NCBI 1000 Genomes Browser:

rs749355583

Molecular consequence:

NM_001032394.3:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001032395.3:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_020455.6:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198569.3:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Arthrogryposis multiplex congenita (AMC)
Synonyms:: Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015168; MeSH: D001176; MedGen: C5779613; Orphanet: 1037; OMIM: PS617468; Human Phenotype Ontology: HP:0002804

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222094	Harry Perkins Institute Of Medical Research, University Of Western Australia	criteria provided, single submitter (Submitter's publication)	Pathogenic (Dec 1, 2014)	germline	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

SCV000222094

Harry Perkins Institute Of Medical Research, University Of Western Australia

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Dec 1, 2014)

germline

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	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	no	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.

Am J Hum Genet. 2015 Jun 4;96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21.

PubMed [citation]

PMID:: 26004201
PMCID:: PMC4457946

Details of each submission

From Harry Perkins Institute Of Medical Research, University Of Western Australia, SCV000222094.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	no	1	not provided	not provided		1	not provided	not provided	not provided
3	germline	no	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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