rs200102944
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000444293.5(IQCF3):c.110C>A(p.Thr37Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/14 in silico tools predict a benign 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. T37M) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000444293.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IQCF3 | NM_001393887.1 | c.220C>A | p.Arg74Arg | synonymous_variant | Exon 3 of 3 | ENST00000440739.4 | NP_001380816.1 | |
IQCF3 | NM_001085479.3 | c.220C>A | p.Arg74Arg | synonymous_variant | Exon 7 of 7 | NP_001078948.1 | ||
IQCF3 | NM_001207023.2 | c.220C>A | p.Arg74Arg | synonymous_variant | Exon 7 of 7 | NP_001193952.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IQCF3 | ENST00000440739.4 | c.220C>A | p.Arg74Arg | synonymous_variant | Exon 3 of 3 | 2 | NM_001393887.1 | ENSP00000402012.2 | ||
ENSG00000285749 | ENST00000456080.5 | c.220C>A | p.Arg74Arg | synonymous_variant | Exon 8 of 8 | 2 | ENSP00000415609.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
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.