3-186790061-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002916.5(RFC4):c.1000G>A(p.Val334Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000105 in 1,613,304 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 8/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002916.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000877 AC: 22AN: 250946Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135614
GnomAD4 exome AF: 0.000107 AC: 157AN: 1460988Hom.: 0 Cov.: 30 AF XY: 0.000103 AC XY: 75AN XY: 726766
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1000G>A (p.V334I) alteration is located in exon 11 (coding exon 10) of the RFC4 gene. This alteration results from a G to A substitution at nucleotide position 1000, causing the valine (V) at amino acid position 334 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