NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser) AND Joubert syndrome 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 23, 2015
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:: RCV000201544.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)]

NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)

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.1453C>T (p.Pro485Ser)

HGVS:

NC_000008.11:g.93787884C>T
NG_009190.1:g.38041C>T
NM_001142301.1:c.1210C>T
NM_153704.6:c.1453C>TMANE SELECT
NP_001135773.1:p.Pro404Ser
NP_714915.3:p.Pro485Ser
NP_714915.3:p.Pro485Ser
LRG_688t1:c.1453C>T
LRG_688t2:c.1210C>T
LRG_688:g.38041C>T
LRG_688p1:p.Pro485Ser
LRG_688p2:p.Pro404Ser
NC_000008.10:g.94800112C>T
NM_153704.5:c.1453C>T
NR_024522.2:n.1474C>T
Q5HYA8:p.Pro485Ser

Protein change:

P404S

Links:

UniProtKB: Q5HYA8#VAR_063795; dbSNP: rs863225228

NCBI 1000 Genomes Browser:

rs863225228

Molecular consequence:

NM_001142301.1:c.1210C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_153704.6:c.1453C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_024522.2:n.1474C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000256500	UW Hindbrain Malformation Research Program, University of Washington See additional submitters University of Washington Center for Mendelian Genomics, University of Washington	criteria provided, single submitter (Bachmann-Gagescu et al. (J Med Genet. 2015))	Pathogenic (Feb 23, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256500

UW Hindbrain Malformation Research Program, University of Washington

See additional submitters

criteria provided, single submitter

(Bachmann-Gagescu et al. (J Med Genet. 2015))

Pathogenic
(Feb 23, 2015)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]

PMID:: 26092869
PMCID:: PMC5082428

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000256500.1

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

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

Last Updated: Apr 23, 2022

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