NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys) AND Lethal congenital contracture syndrome 8

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2014
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:: RCV000169693.4

Allele description [Variation Report for NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)]

NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)

Genes:

ADCY6:adenylate cyclase 6 [Gene - OMIM - HGNC]
TEX49:testis expressed 49 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)

HGVS:

NC_000012.12:g.48768972G>A
NG_042166.1:g.25125C>T
NM_015270.5:c.3346C>TMANE SELECT
NP_056085.1:p.Arg1116Cys
NC_000012.11:g.49162755G>A
O43306:p.Arg1116Cys

Protein change:

R1116C; ARG1116CYS

Links:

UniProtKB: O43306#VAR_073434; OMIM: 600294.0001; dbSNP: rs786204798

NCBI 1000 Genomes Browser:

rs786204798

Molecular consequence:

NM_015270.5:c.3346C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lethal congenital contracture syndrome 8 (LCCS8)
Identifiers:: MONDO: MONDO:0014570; MedGen: C4225385; OMIM: 616287

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221229	OMIM	no assertion criteria provided	Pathogenic (May 1, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221229

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2014)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, et al.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PubMed [citation]

PMID:: 24319099

Details of each submission

From OMIM, SCV000221229.2

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

Description

In 2 sibs from a consanguineous family (A649) with lethal arthrogryposis multiplex congenita (LCCS8; 616287), Laquerriere et al. (2014) identified a homozygous c.3346C-T transition (c.3346C-T, NM_015270) in exon 20 of the ADCY6 gene, resulting in an arg1116-to-cys (R1116C) substitution. The parents were heterozygous for the mutation, which was not found in the Exome Variant Server or the dbSNP (build 138) databases. Knockdown of ADCY6 orthologs in zebrafish led to a similar phenotype.

#	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

Last Updated: Mar 26, 2023

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