6-4999818-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006638.4(RPP40):āc.424A>Gā(p.Met142Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000506 in 1,581,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006638.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250364Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135326
GnomAD4 exome AF: 0.00000350 AC: 5AN: 1429382Hom.: 0 Cov.: 25 AF XY: 0.00000421 AC XY: 3AN XY: 713216
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.424A>G (p.M142V) alteration is located in exon 4 (coding exon 4) of the RPP40 gene. This alteration results from a A to G substitution at nucleotide position 424, causing the methionine (M) at amino acid position 142 to be replaced by a valine (V). 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