chr10-67884831-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_012238.5(SIRT1):c.110C>T(p.Pro37Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00317 in 1,223,802 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_012238.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIRT1 | NM_012238.5 | c.110C>T | p.Pro37Leu | missense_variant | Exon 1 of 9 | ENST00000212015.11 | NP_036370.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00293 AC: 444AN: 151296Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00320 AC: 3436AN: 1072400Hom.: 4 Cov.: 34 AF XY: 0.00324 AC XY: 1641AN XY: 506310
GnomAD4 genome AF: 0.00293 AC: 443AN: 151402Hom.: 0 Cov.: 33 AF XY: 0.00309 AC XY: 229AN XY: 74024
ClinVar
Submissions by phenotype
not provided Benign:2
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SIRT1-related disorder Benign:1
This variant is classified as likely 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