chr19-4174814-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016539.4(SIRT6):c.871C>T(p.Arg291Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000452 in 442,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. R291H) has been classified as Uncertain significance.
Frequency
Consequence
NM_016539.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRT6 | NM_016539.4 | c.871C>T | p.Arg291Cys | missense_variant | 8/8 | ENST00000337491.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRT6 | ENST00000337491.7 | c.871C>T | p.Arg291Cys | missense_variant | 8/8 | 1 | NM_016539.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000149 AC: 2AN: 134460Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000144 AC: 2AN: 139142Hom.: 0 AF XY: 0.0000262 AC XY: 2AN XY: 76290
GnomAD4 exome AF: 0.0000585 AC: 18AN: 307906Hom.: 0 Cov.: 0 AF XY: 0.0000400 AC XY: 7AN XY: 174842
GnomAD4 genome ? AF: 0.0000149 AC: 2AN: 134460Hom.: 0 Cov.: 31 AF XY: 0.0000155 AC XY: 1AN XY: 64660
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.871C>T (p.R291C) alteration is located in exon 8 (coding exon 8) of the SIRT6 gene. This alteration results from a C to T substitution at nucleotide position 871, causing the arginine (R) at amino acid position 291 to be replaced by a cysteine (C). 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