NM_001082538.3(TCTN1):c.220+11T>C AND multiple conditions

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 11, 2023
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:: RCV003794453.1

Allele description

NM_001082538.3(TCTN1):c.220+11T>C

Genes:

LOC130008755:ATAC-STARR-seq lymphoblastoid active region 7012 [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.220+11T>C

HGVS:

NC_000012.12:g.110614413T>C
NG_030381.1:g.5387T>C
NG_187324.1:g.108T>C
NM_001082537.3:c.220+11T>C
NM_001082538.3:c.220+11T>CMANE SELECT
NM_001173975.3:c.2T>C
NM_001173976.2:c.-37+11T>C
NM_001319680.2:c.220+11T>C
NM_001319681.2:c.-488+11T>C
NM_001319682.3:c.2T>C
NM_024549.6:c.220+11T>C
NP_001167446.1:p.Met1Thr
NP_001306611.1:p.Met1Thr
NC_000012.11:g.111052218T>C
NR_135088.2:n.285T>C

Protein change:

M1T

Molecular consequence:

NM_001173975.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001319682.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001082537.3:c.220+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001082538.3:c.220+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001173976.2:c.-37+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001319680.2:c.220+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001319681.2:c.-488+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_024549.6:c.220+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001173975.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319682.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_135088.2:n.285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial aplasia of the vermis
Synonyms:: CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

Name:: Meckel-Gruber syndrome
Synonyms:: DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:: MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

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Microbe sample from Saccharomyces cerevisiae
Microbe sample from Saccharomyces cerevisiae

biosample
ChIP_Histone_SPT5_14
ChIP_Histone_SPT5_14

biosample
PREDICTED: Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript varia...
PREDICTED: Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant X26, mRNA
gi|2462510396|ref|XM_054337190.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004585252	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004585252

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 11, 2023)

germline

clinical testing

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

Citations

PubMed

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004585252.1

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

#	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: Mar 5, 2024

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