rs397516645
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_001330.5(CTF1):c.145-10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000827 in 1,450,354 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001330.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151850Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000487 AC: 4AN: 82074Hom.: 0 AF XY: 0.0000641 AC XY: 3AN XY: 46798
GnomAD4 exome AF: 0.00000462 AC: 6AN: 1298504Hom.: 0 Cov.: 30 AF XY: 0.00000312 AC XY: 2AN XY: 640348
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151850Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74174
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Benign. The 145-10G>A varia nt (CTF1) has not been reported in the literature nor previously identified by o ur laboratory. This variant is located in the 3' splice region. Computational to ols do not predict altered splicing; however, this information is not predictive enough to rule out pathogenicity. Additional studies are needed to fully assess the clinical significance of the 145-10G>A variant. -
Dilated Cardiomyopathy, Dominant Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at