10-67912586-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_012238.5(SIRT1):āc.1470T>Cā(p.Cys490=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012238.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRT1 | NM_012238.5 | c.1470T>C | p.Cys490= | synonymous_variant | 8/9 | ENST00000212015.11 | |
SIRT1 | NM_001142498.2 | c.585T>C | p.Cys195= | synonymous_variant | 7/8 | ||
SIRT1 | NM_001314049.2 | c.561T>C | p.Cys187= | synonymous_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRT1 | ENST00000212015.11 | c.1470T>C | p.Cys490= | synonymous_variant | 8/9 | 1 | NM_012238.5 | P1 | |
SIRT1 | ENST00000403579.1 | c.561T>C | p.Cys187= | synonymous_variant | 5/6 | 1 | |||
SIRT1 | ENST00000432464.5 | c.585T>C | p.Cys195= | synonymous_variant | 7/8 | 5 | |||
SIRT1 | ENST00000406900.5 | c.561T>C | p.Cys187= | synonymous_variant | 6/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461856Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727228
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at