NM_022114.4:c.2940-15G>A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_022114.4(PRDM16):c.2940-15G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000899 in 1,612,932 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 Likely benign (★★).
Frequency
Consequence
NM_022114.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000185 AC: 46AN: 248130Hom.: 0 AF XY: 0.000252 AC XY: 34AN XY: 134720
GnomAD4 exome AF: 0.0000876 AC: 128AN: 1460724Hom.: 0 Cov.: 32 AF XY: 0.000132 AC XY: 96AN XY: 726690
GnomAD4 genome AF: 0.000112 AC: 17AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74424
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
proposed classification - variant undergoing re-assessment, contact laboratory -
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