11-1934933-C-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006757.4(TNNT3):c.681+14C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006757.4 intron
Scores
Clinical Significance
Conservation
Publications
- distal arthrogryposis type 2B1Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
- congenital myopathyInheritance: AR Classification: STRONG Submitted by: G2P
- arthrogryposis, distal, type 2B2Inheritance: AD Classification: MODERATE Submitted by: Ambry Genetics
- nemaline myopathyInheritance: AR Classification: MODERATE, LIMITED Submitted by: Ambry Genetics, ClinGen
- digitotalar dysmorphismInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Sheldon-hall syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000399 AC: 1AN: 250508 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460182Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726414 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at