Variant rs11327756 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_012238.5(SIRT1):c.790-364_790-359del 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: not found (cov: 0)

Consequence

SIRT1
NM_012238.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.18

Variant links:

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]

SIRT1 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	MANE	Protein
SIRT1	NM_012238.5 linkuse as main transcript	c.790-364_790-359del	intron_variant	ENST00000212015.11	NP_036370.2
SIRT1	NM_001142498.2 linkuse as main transcript	c.-96-364_-96-359del	intron_variant		NP_001135970.1
SIRT1	NM_001314049.2 linkuse as main transcript	c.-245-364_-245-359del	intron_variant		NP_001300978.1

Ensembl

Gene	Transcript	HGVSc	Effect	TSL	MANE	Protein	Appris	UniProt
SIRT1	ENST00000212015.11 linkuse as main transcript	c.790-364_790-359del	intron_variant	1	NM_012238.5	ENSP00000212015	P1	Q96EB6-1
SIRT1	ENST00000432464.5 linkuse as main transcript	c.-96-364_-96-359del	intron_variant	5		ENSP00000409208
SIRT1	ENST00000473922.1 linkuse as main transcript	n.334-364_334-359del	intron_variant, non_coding_transcript_variant	4
SIRT1	ENST00000497639.5 linkuse as main transcript	n.579-364_579-359del	intron_variant, non_coding_transcript_variant	5

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.