chr11-233364-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012239.6(SIRT3):c.452C>G(p.Pro151Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,764 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P151T) has been classified as Uncertain significance.
Frequency
Consequence
NM_012239.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRT3 | NM_012239.6 | c.452C>G | p.Pro151Arg | missense_variant | 2/7 | ENST00000382743.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRT3 | ENST00000382743.9 | c.452C>G | p.Pro151Arg | missense_variant | 2/7 | 1 | NM_012239.6 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000230 AC: 35AN: 151894Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 250868Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135582
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461752Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727168
GnomAD4 genome ? AF: 0.000230 AC: 35AN: 152012Hom.: 1 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 12, 2022 | The c.452C>G (p.P151R) alteration is located in exon 2 (coding exon 2) of the SIRT3 gene. This alteration results from a C to G substitution at nucleotide position 452, causing the proline (P) at amino acid position 151 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at