8-42850975-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001160224.2(RNF170):c.419G>A(p.Arg140His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000142 in 1,551,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_001160224.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152110Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000912 AC: 14AN: 153466Hom.: 0 AF XY: 0.0000981 AC XY: 8AN XY: 81564
GnomAD4 exome AF: 0.000143 AC: 200AN: 1399338Hom.: 0 Cov.: 31 AF XY: 0.000139 AC XY: 96AN XY: 690186
GnomAD4 genome AF: 0.000138 AC: 21AN: 152110Hom.: 0 Cov.: 31 AF XY: 0.0000942 AC XY: 7AN XY: 74290
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.419G>A (p.R140H) alteration is located in exon 6 (coding exon 5) of the RNF170 gene. This alteration results from a G to A substitution at nucleotide position 419, causing the arginine (R) at amino acid position 140 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
RNF170: PM2, BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at