NM_018285.4:c.167G>C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_018285.4(IMP3):c.167G>C(p.Arg56Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000524 in 1,601,568 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018285.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IMP3 | ENST00000403490.3 | c.167G>C | p.Arg56Pro | missense_variant | Exon 1 of 1 | 6 | NM_018285.4 | ENSP00000385217.1 | ||
IMP3 | ENST00000314852.2 | c.167G>C | p.Arg56Pro | missense_variant | Exon 2 of 2 | 2 | ENSP00000326981.2 | |||
ENSG00000275454 | ENST00000621523.1 | n.243C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000776 AC: 17AN: 219060Hom.: 0 AF XY: 0.0000330 AC XY: 4AN XY: 121294
GnomAD4 exome AF: 0.0000310 AC: 45AN: 1449312Hom.: 0 Cov.: 32 AF XY: 0.0000194 AC XY: 14AN XY: 720160
GnomAD4 genome AF: 0.000256 AC: 39AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.167G>C (p.R56P) alteration is located in exon 1 (coding exon 1) of the IMP3 gene. This alteration results from a G to C substitution at nucleotide position 167, causing the arginine (R) at amino acid position 56 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