chr20-64073951-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005873.3(RGS19):c.556A>G(p.Thr186Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,708 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T186M) has been classified as Uncertain significance.
Frequency
Consequence
NM_005873.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RGS19 | NM_005873.3 | c.556A>G | p.Thr186Ala | missense_variant | 6/6 | ENST00000395042.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS19 | ENST00000395042.2 | c.556A>G | p.Thr186Ala | missense_variant | 6/6 | 1 | NM_005873.3 | P1 | |
RGS19 | ENST00000332298.9 | c.556A>G | p.Thr186Ala | missense_variant | 6/6 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247534Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134038
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461570Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727088
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.556A>G (p.T186A) alteration is located in exon 6 (coding exon 5) of the RGS19 gene. This alteration results from a A to G substitution at nucleotide position 556, causing the threonine (T) at amino acid position 186 to be replaced by an alanine (A). 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