NM_004612.4:c.61_78dupGCGGCGGCGGCGGCGGCG
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004612.4(TGFBR1):c.61_78dupGCGGCGGCGGCGGCGGCG(p.Ala21_Ala26dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000702 in 142,424 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004612.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000702 AC: 1AN: 142424Hom.: 0 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 900968Hom.: 0 Cov.: 7 AF XY: 0.00 AC XY: 0AN XY: 422762
GnomAD4 genome AF: 0.00000702 AC: 1AN: 142424Hom.: 0 Cov.: 30 AF XY: 0.0000144 AC XY: 1AN XY: 69286
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Uncertain:1
This variant, c.61_78dup, results in the insertion of 6 amino acid(s) of the TGFBR1 protein (p.Ala21_Ala26dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TGFBR1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at