chr11-233210-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012239.6(SIRT3):c.479C>T(p.Pro160Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,014 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P160Q) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRT3 | NM_012239.6 | c.479C>T | p.Pro160Leu | missense_variant | 3/7 | ENST00000382743.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRT3 | ENST00000382743.9 | c.479C>T | p.Pro160Leu | missense_variant | 3/7 | 1 | NM_012239.6 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000108 AC: 27AN: 250594Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135484
GnomAD4 exome AF: 0.0000500 AC: 73AN: 1460892Hom.: 0 Cov.: 33 AF XY: 0.0000592 AC XY: 43AN XY: 726628
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.479C>T (p.P160L) alteration is located in exon 3 (coding exon 3) of the SIRT3 gene. This alteration results from a C to T substitution at nucleotide position 479, causing the proline (P) at amino acid position 160 to be replaced by a leucine (L). 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