7-150293370-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164458.2(ACTR3C):c.95G>C(p.Arg32Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000373 in 1,608,306 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. R32C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164458.2 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 |
---|---|---|---|---|---|---|---|
ACTR3C | NM_001164458.2 | c.95G>C | p.Arg32Pro | missense_variant | 3/8 | ENST00000683684.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTR3C | ENST00000683684.1 | c.95G>C | p.Arg32Pro | missense_variant | 3/8 | NM_001164458.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152042Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243398Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131068
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456146Hom.: 0 Cov.: 33 AF XY: 0.00000276 AC XY: 2AN XY: 723574
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152160Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2023 | The c.95G>C (p.R32P) alteration is located in exon 3 (coding exon 2) of the ACTR3C gene. This alteration results from a G to C substitution at nucleotide position 95, causing the arginine (R) at amino acid position 32 to be replaced by a proline (P). 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