NM_001267550.2(TTN):c.34930+2T>C AND not provided

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Aug 31, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000597258.13

Allele description [Variation Report for NM_001267550.2(TTN):c.34930+2T>C]

NM_001267550.2(TTN):c.34930+2T>C

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.34930+2T>C

HGVS:

NC_000002.12:g.178672405A>G
NG_011618.3:g.163398T>C
NM_001256850.1:c.33808+2T>C
NM_001267550.2:c.34930+2T>CMANE SELECT
NM_003319.4:c.13283-30088T>C
NM_133378.4:c.31027+2T>C
NM_133432.3:c.13658-30088T>C
NM_133437.4:c.13859-30088T>C
LRG_391:g.163398T>C
NC_000002.11:g.179537132A>G
NM_133378.4:c.31027+2T>C

Links:

dbSNP: rs749252830

NCBI 1000 Genomes Browser:

rs749252830

Molecular consequence:

NM_003319.4:c.13283-30088T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-30088T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-30088T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.33808+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001267550.2:c.34930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_133378.4:c.31027+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000708687	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jun 1, 2017)	germline	clinical testing	Citation Link,
SCV001820453	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 31, 2023)	germline	clinical testing	Citation Link,
SCV002501262	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 31, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28798025, 30535219, 25741868
SCV003822987	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 21, 2019)	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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN.

Circ Cardiovasc Genet. 2017 Aug;10(4). doi:pii: e001763. 10.1161/CIRCGENETICS.117.001763.

PubMed [citation]

PMID:: 28798025
PMCID:: PMC5665372

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.

Choi SH, Weng LC, Roselli C, Lin H, Haggerty CM, Shoemaker MB, Barnard J, Arking DE, Chasman DI, Albert CM, Chaffin M, Tucker NR, Smith JD, Gupta N, Gabriel S, Margolin L, Shea MA, Shaffer CM, Yoneda ZT, Boerwinkle E, Smith NL, Silverman EK, et al.

JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179.

PubMed [citation]

PMID:: 30535219
PMCID:: PMC6436530

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000708687.2

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV001820453.3

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

Description

Identified in an individual with early-onset atrial fibrillation as well as in an individual with left ventricular noncompaction who also harbored a truncation variant in RBM20 (Miszalski-Jamka et al., 2017; Choi et al., 2018); Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Located in a region of TTN within the I-band in which the majority of loss of function variants are significantly associated with autosomal dominant titinopathies (Deo et al., 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 28798025, 35177841, 30535219, 27625338, 27869827)

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

From AiLife Diagnostics, AiLife Diagnostics, SCV002501262.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

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

From Revvity Omics, Revvity, SCV003822987.2

#	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: Jun 17, 2024

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