NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) AND Joubert syndrome 14

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 2022
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:: RCV001381533.4

Allele description [Variation Report for NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)]

NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)

Gene:

TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)

HGVS:

NC_000002.12:g.201629801_201629802del
NG_032049.1:g.18729_18730del
NM_001044385.3:c.605_606delMANE SELECT
NM_152388.4:c.581_582del
NP_001037850.1:p.Ile202fs
NP_689601.2:p.Ile194fs
NC_000002.11:g.202494523_202494524del
NC_000002.11:g.202494524_202494525del

Protein change:

I194fs

Links:

dbSNP: rs756970007

NCBI 1000 Genomes Browser:

rs756970007

Molecular consequence:

NM_001044385.3:c.605_606del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152388.4:c.581_582del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Joubert syndrome 14 (JBTS14)
Identifiers:: MONDO: MONDO:0013745; MedGen: C3280766; OMIM: 614424

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001579973	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 12, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22152675, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001579973

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 12, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, et al.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

PubMed [citation]

PMID:: 22152675
PMCID:: PMC3234373

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001579973.4

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069606). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. This variant is present in population databases (rs756970007, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile202Argfs*87) in the TMEM237 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675).

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

Last Updated: Feb 20, 2024

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