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NM_001082538.3(TCTN1):c.342-2A>G AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 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:
RCV000162131.2

Allele description [Variation Report for NM_001082538.3(TCTN1):c.342-2A>G]

NM_001082538.3(TCTN1):c.342-2A>G

Gene:
TCTN1:tectonic family member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_001082538.3(TCTN1):c.342-2A>G
HGVS:
  • NC_000012.12:g.110626360A>G
  • NG_030381.1:g.17334A>G
  • NM_001082537.3:c.342-2A>G
  • NM_001082538.3:c.342-2A>GMANE SELECT
  • NM_001173975.3:c.174-2A>G
  • NM_001173976.2:c.162-2A>G
  • NM_001319680.2:c.342-2A>G
  • NM_001319681.2:c.-366-2A>G
  • NM_001319682.3:c.174-2A>G
  • NM_024549.6:c.342-2A>G
  • NC_000012.11:g.111064165A>G
  • NM_001082538.2:c.342-2A>G
Links:
dbSNP: rs730882221
NCBI 1000 Genomes Browser:
rs730882221
Molecular consequence:
  • NM_001082537.3:c.342-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001082538.3:c.342-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001173975.3:c.174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001173976.2:c.162-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001319680.2:c.342-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001319681.2:c.-366-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001319682.3:c.174-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_024549.6:c.342-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Typical Joubert syndrome MRI findings
Identifiers:
MedGen: CN228298

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196416Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
no assertion criteria provided

(research)		Likely pathogenic
(Dec 1, 2014) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25558065

Details of each submission

From Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre, SCV000196416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024