chr16-269279-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_183337.3(RGS11):c.1394G>A(p.Gly465Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000433 in 1,570,128 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_183337.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RGS11 | NM_183337.3 | c.1394G>A | p.Gly465Glu | missense_variant | 17/17 | ENST00000397770.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS11 | ENST00000397770.8 | c.1394G>A | p.Gly465Glu | missense_variant | 17/17 | 1 | NM_183337.3 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000547 AC: 10AN: 182888Hom.: 0 AF XY: 0.0000509 AC XY: 5AN XY: 98260
GnomAD4 exome AF: 0.0000409 AC: 58AN: 1417780Hom.: 0 Cov.: 30 AF XY: 0.0000328 AC XY: 23AN XY: 701340
GnomAD4 genome ? AF: 0.0000656 AC: 10AN: 152348Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 29, 2024 | The c.1394G>A (p.G465E) alteration is located in exon 17 (coding exon 17) of the RGS11 gene. This alteration results from a G to A substitution at nucleotide position 1394, causing the glycine (G) at amino acid position 465 to be replaced by a glutamic acid (E). 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