rs757606947
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001163857.2(CIMIP4):āc.617G>Cā(p.Arg206Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,434 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R206Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001163857.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CIMIP4 | NM_001163857.2 | c.617G>C | p.Arg206Pro | missense_variant | Exon 4 of 6 | ENST00000381821.2 | NP_001157329.1 | |
CIMIP4 | NM_178552.4 | c.362G>C | p.Arg121Pro | missense_variant | Exon 4 of 6 | NP_848647.1 | ||
CIMIP4 | XM_011530165.3 | c.617G>C | p.Arg206Pro | missense_variant | Exon 5 of 7 | XP_011528467.1 | ||
CIMIP4 | XM_011530166.2 | c.362G>C | p.Arg121Pro | missense_variant | Exon 4 of 6 | XP_011528468.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TEX33 | ENST00000381821.2 | c.617G>C | p.Arg206Pro | missense_variant | Exon 4 of 6 | 1 | NM_001163857.2 | ENSP00000371243.1 | ||
TEX33 | ENST00000402860.7 | c.362G>C | p.Arg121Pro | missense_variant | Exon 4 of 6 | 1 | ENSP00000385179.3 | |||
TEX33 | ENST00000405091.6 | c.617G>C | p.Arg206Pro | missense_variant | Exon 5 of 7 | 5 | ENSP00000386118.2 | |||
TEX33 | ENST00000442538.5 | c.191G>C | p.Arg64Pro | missense_variant | Exon 2 of 4 | 3 | ENSP00000406640.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461434Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727042
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.