16-272918-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_183337.3(RGS11):āc.602A>Gā(p.Asp201Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000116 in 1,519,564 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D201N) has been classified as Likely benign.
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.602A>G | p.Asp201Gly | missense_variant | 9/17 | ENST00000397770.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS11 | ENST00000397770.8 | c.602A>G | p.Asp201Gly | missense_variant | 9/17 | 1 | NM_183337.3 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152068Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000104 AC: 13AN: 125572Hom.: 0 AF XY: 0.000105 AC XY: 7AN XY: 66846
GnomAD4 exome AF: 0.000112 AC: 153AN: 1367378Hom.: 0 Cov.: 32 AF XY: 0.000103 AC XY: 69AN XY: 670280
GnomAD4 genome AF: 0.000158 AC: 24AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 08, 2022 | The c.602A>G (p.D201G) alteration is located in exon 9 (coding exon 9) of the RGS11 gene. This alteration results from a A to G substitution at nucleotide position 602, causing the aspartic acid (D) at amino acid position 201 to be replaced by a glycine (G). 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