NM_012239.6:c.843G>A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_012239.6(SIRT3):c.843G>A(p.Pro281Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000427 in 1,614,110 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_012239.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000756 AC: 115AN: 152208Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00144 AC: 362AN: 250840Hom.: 0 AF XY: 0.00144 AC XY: 195AN XY: 135702
GnomAD4 exome AF: 0.000395 AC: 578AN: 1461784Hom.: 3 Cov.: 33 AF XY: 0.000400 AC XY: 291AN XY: 727198
GnomAD4 genome AF: 0.000729 AC: 111AN: 152326Hom.: 3 Cov.: 32 AF XY: 0.000765 AC XY: 57AN XY: 74490
ClinVar
Submissions by phenotype
SIRT3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at