chr4-3317133-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001394154.1(RGS12):c.963C>G(p.Asp321Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000128 in 1,613,958 control chromosomes in the GnomAD database, including 2 homozygotes. 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 Likely benign (★).
Frequency
Consequence
NM_001394154.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RGS12 | NM_001394154.1 | c.963C>G | p.Asp321Glu | missense_variant | 2/18 | ENST00000336727.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS12 | ENST00000336727.8 | c.963C>G | p.Asp321Glu | missense_variant | 2/18 | 1 | NM_001394154.1 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000426 AC: 107AN: 250980Hom.: 0 AF XY: 0.000390 AC XY: 53AN XY: 135864
GnomAD4 exome AF: 0.000123 AC: 180AN: 1461602Hom.: 2 Cov.: 47 AF XY: 0.000120 AC XY: 87AN XY: 727096
GnomAD4 genome ? AF: 0.000177 AC: 27AN: 152356Hom.: 0 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 01, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at