19-5995607-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000635.4(RFX2):c.2050G>A(p.Asp684Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000387 in 1,552,312 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000635.4 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: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1400038Hom.: 0 Cov.: 32 AF XY: 0.00000290 AC XY: 2AN XY: 690612
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152274Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2050G>A (p.D684N) alteration is located in exon 17 (coding exon 16) of the RFX2 gene. This alteration results from a G to A substitution at nucleotide position 2050, causing the aspartic acid (D) at amino acid position 684 to be replaced by an asparagine (N). 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