1-3069313-CGGCCGCGCCGCGCCGCCGGGGCCCGGGCCGCCG-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_022114.4(PRDM16):c.37+23_37+55delCGCCGCGCCGCCGGGGCCCGGGCCGCCGGGCCG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000167 in 1,200,814 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_022114.4 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD2 exomes AF: 0.00 AC: 0AN: 157718 AF XY: 0.00
GnomAD4 exome AF: 0.00000167 AC: 2AN: 1200814Hom.: 0 AF XY: 0.00000338 AC XY: 2AN XY: 591616 show subpopulations
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
Left ventricular noncompaction 8 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at