NM_022114.4:c.2187C>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_022114.4(PRDM16):āc.2187C>Gā(p.Phe729Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000268 in 1,613,456 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_022114.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000355 AC: 88AN: 248214Hom.: 0 AF XY: 0.000341 AC XY: 46AN XY: 134838
GnomAD4 exome AF: 0.000263 AC: 384AN: 1461098Hom.: 1 Cov.: 36 AF XY: 0.000308 AC XY: 224AN XY: 726928
GnomAD4 genome AF: 0.000322 AC: 49AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.000403 AC XY: 30AN XY: 74502
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
In silico analysis indicates that this missense variant does not alter protein structure/function; Reported in association with left ventricular noncompaction (LVNC) and arrhythmogenic right ventricular cardiomyopathy (ARVC); patient-specific details were not described (PMID: 28798025, 30847666); This variant is associated with the following publications: (PMID: 33917638, 30847666, 28798025) -
PRDM16: BP4, BS1 -
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