NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) AND Orofacial-digital syndrome IV

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 22, 2014
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:: RCV000190630.1

Allele description

NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)

Gene:

TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

Preferred name:

NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)

HGVS:

NC_000010.11:g.95686506G>A
NG_032953.1:g.12638C>T
NM_001143973.2:c.640C>T
NM_015631.6:c.877C>TMANE SELECT
NP_001137445.1:p.Gln214Ter
NP_056446.4:p.Gln293Ter
NC_000010.10:g.97446263G>A
NM_015631.5:c.877C>T

Protein change:

Q214*

Links:

dbSNP: rs764091969

NCBI 1000 Genomes Browser:

rs764091969

Molecular consequence:

NM_001143973.2:c.640C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015631.6:c.877C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Orofacial-digital syndrome IV (OFD4)
Synonyms:: OFD SYNDROME, BARAITSER-BURN TYPE; OFDS IV; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009794; MedGen: C0406727; Orphanet: 2753; OMIM: 258860

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245669	Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - CSER-MedSeq	criteria provided, single submitter (LMM Criteria)	Pathogenic (Aug 22, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22883145, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245669

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - CSER-MedSeq

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Aug 22, 2014)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

TCTN3 mutations cause Mohr-Majewski syndrome.

Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, et al.

Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.

PubMed [citation]

PMID:: 22883145
PMCID:: PMC3415538

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - CSER-MedSeq, SCV000245669.1

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

Description

The Gln293X variant in TCTN3 has not been previously reported in individuals with disease or in large population studies. This nonsense variant leads to a premature termination codon at position 293, which is predicted to lead to a truncated or absent protein. Nonsense and other loss-of-function variants in TCTN3 have been associated with autosomal recessive orofaciodigital syndrome type IV (Thomas 2012). In summary, the Gln293X variant meets our criteria to be classified as pathogenic for orofaciodigital syndrome 4 in an recessive manner (http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine).

#	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		1	not provided	1	not provided

Last Updated: Apr 8, 2022

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