NM_032194.3:c.401A>T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032194.3(RPF2):c.401A>T(p.Lys134Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000253 in 1,581,910 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032194.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150618Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000873 AC: 2AN: 229084Hom.: 0 AF XY: 0.0000161 AC XY: 2AN XY: 123930
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1431292Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 711012
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150618Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.401A>T (p.K134I) alteration is located in exon 7 (coding exon 7) of the RPF2 gene. This alteration results from a A to T substitution at nucleotide position 401, causing the lysine (K) at amino acid position 134 to be replaced by an isoleucine (I). 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