NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) AND Lethal congenital contracture syndrome 9

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jun 4, 2015
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:: RCV000186598.7

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]

Condition(s)

Name:: Lethal congenital contracture syndrome 9 (LCCS9)
Identifiers:: MONDO: MONDO:0014670; MedGen: C4225303; OMIM: 616503

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240205	OMIM	no assertion criteria provided	Pathogenic (Jun 4, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001167562	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

SCV000240205

OMIM

no assertion criteria provided

Pathogenic
(Jun 4, 2015)

germline

literature only

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

SCV001167562

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	3	1	not provided	not provided	yes	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

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

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 OMIM, SCV000240205.2

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

Description

In a fetus with lethal congenital contracture syndrome-9 (LCCS9; 616503), Ravenscroft et al. (2015) identified homozygosity for a c.19C-T transition (c.19C-T, NM_198569.2) in exon 2 of the GPR126 gene, resulting in an arg7-to-ter (R7X) substitution. The mutation was present in heterozygosity in the unaffected first-cousin parents and was not found in the dbSNP (build 142) or Exome Variant Server databases.

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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167562.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	yes	research	PubMed (1)

Description

"Two genes were thought to be involved in this patient's phenotype including homozygous GPR126 c.19C>T and compound heterozygous MYBPC2 c.707C>T/c.1864G>C"

PubMed [ID: 26752647]

#	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		3	not provided	1	not provided

Last Updated: Feb 4, 2024

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