NM_153704.6(TMEM67):c.651+2T>G AND Joubert syndrome 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2007
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:: RCV000001439.4

Allele description [Variation Report for NM_153704.6(TMEM67):c.651+2T>G]

NM_153704.6(TMEM67):c.651+2T>G

Gene:

TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_153704.6(TMEM67):c.651+2T>G

HGVS:

NC_000008.11:g.93765648T>G
NG_009190.1:g.15805T>G
NM_001142301.1:c.408+2T>G
NM_153704.6:c.651+2T>GMANE SELECT
LRG_688t1:c.651+2T>G
LRG_688t2:c.408+2T>G
LRG_688:g.15805T>G
NC_000008.10:g.94777876T>G
NM_153704.5:c.651+2T>G
NM_153704.6:c.651+2T>G

Nucleotide change:

IVS6+2T-G

Links:

OMIM: 609884.0009; dbSNP: rs199821258

NCBI 1000 Genomes Browser:

rs199821258

Molecular consequence:

NM_001142301.1:c.408+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_153704.6:c.651+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Joubert syndrome 6 (JBTS6)
Identifiers:: MONDO: MONDO:0012539; MedGen: C1853153; Orphanet: 475; OMIM: 610688

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021589	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 17160906, 16541367

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021589

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2007)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T.

Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.

PubMed [citation]

PMID:: 17160906
PMCID:: PMC1785313

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, de Lonlay P.

Neuropediatrics. 2006 Feb;37(1):42-5.

PubMed [citation]

PMID:: 16541367

Details of each submission

From OMIM, SCV000021589.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Baala et al. (2007) demonstrated compound heterozygosity for mutations in the MKS3 gene in a 7-year-old girl with a mild form of Joubert syndrome (JBTS6; 610688). The patient had been reported by Romano et al. (2006). Three MKS3 variations were found: on the maternal allele, a donor splice site mutation in intron 6 (IVS6+2T-G), and on the paternal allele, a missense mutation located in exon 16 (G545E; 609884.0010) and a mutation located at the last base of exon 21 (2341G-A; 609884.0010). Either of the mutations from the father could be deleterious.

#	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: Oct 13, 2024

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