Our verdict is Likely benign. The variant received -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001276345.2(TNNT2):c.199+14G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
TNNT2 (HGNC:11949): (troponin T2, cardiac type) This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]
TNNT2 Gene-Disease associations (from GenCC):
dilated cardiomyopathy
Inheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
Our verdict: Likely_benign. The variant received -4 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BP6
Variant 1-201367757-C-T is Benign according to our data. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr1-201367757-C-T is described in CliVar as Likely_benign. Clinvar id is 228020.Status of the report is criteria_provided_single_submitter, 1 stars.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Significance:Likely benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
c.169+14G>A in intron 6 of TNNT2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. -