10-67891029-CAAAAAA-CAAAAAAA
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_012238.5(SIRT1):c.790-359dupA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0034 ( 1 hom., cov: 0)
Consequence
SIRT1
NM_012238.5 intron
NM_012238.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.155
Genes affected
SIRT1 (HGNC:14929): (sirtuin 1) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAd4 at 344 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIRT1 | NM_012238.5 | c.790-359dupA | intron_variant | ENST00000212015.11 | NP_036370.2 | |||
SIRT1 | NM_001142498.2 | c.-96-359dupA | intron_variant | NP_001135970.1 | ||||
SIRT1 | NM_001314049.2 | c.-245-359dupA | intron_variant | NP_001300978.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SIRT1 | ENST00000212015.11 | c.790-373_790-372insA | intron_variant | 1 | NM_012238.5 | ENSP00000212015.6 | ||||
SIRT1 | ENST00000432464.5 | c.-96-373_-96-372insA | intron_variant | 5 | ENSP00000409208.1 | |||||
SIRT1 | ENST00000473922.1 | n.334-373_334-372insA | intron_variant | 4 | ||||||
SIRT1 | ENST00000497639.5 | n.579-373_579-372insA | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00344 AC: 344AN: 100050Hom.: 1 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.00344 AC: 344AN: 100058Hom.: 1 Cov.: 0 AF XY: 0.00395 AC XY: 188AN XY: 47598
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at