rs10242
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_183005.5(RPP38):āc.635T>Cā(p.Ile212Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0268 in 1,614,070 control chromosomes in the GnomAD database, including 631 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_183005.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0235 AC: 3577AN: 152140Hom.: 65 Cov.: 32
GnomAD3 exomes AF: 0.0252 AC: 6323AN: 251388Hom.: 93 AF XY: 0.0249 AC XY: 3384AN XY: 135874
GnomAD4 exome AF: 0.0271 AC: 39608AN: 1461812Hom.: 566 Cov.: 34 AF XY: 0.0267 AC XY: 19439AN XY: 727222
GnomAD4 genome AF: 0.0235 AC: 3579AN: 152258Hom.: 65 Cov.: 32 AF XY: 0.0241 AC XY: 1794AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at