chr7-150293371-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001164458.2(ACTR3C):c.94C>T(p.Arg32Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000392 in 1,608,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. R32P) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACTR3C | NM_001164458.2 | c.94C>T | p.Arg32Cys | missense_variant | 3/8 | ENST00000683684.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTR3C | ENST00000683684.1 | c.94C>T | p.Arg32Cys | missense_variant | 3/8 | NM_001164458.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000119 AC: 18AN: 151896Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000140 AC: 34AN: 243470Hom.: 0 AF XY: 0.0000839 AC XY: 11AN XY: 131116
GnomAD4 exome AF: 0.0000309 AC: 45AN: 1456196Hom.: 0 Cov.: 33 AF XY: 0.0000221 AC XY: 16AN XY: 723576
GnomAD4 genome ? AF: 0.000119 AC: 18AN: 151896Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 9AN XY: 74178
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 03, 2022 | The c.94C>T (p.R32C) alteration is located in exon 3 (coding exon 2) of the ACTR3C gene. This alteration results from a C to T substitution at nucleotide position 94, causing the arginine (R) at amino acid position 32 to be replaced by a cysteine (C). 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