10-44982606-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032023.4(RASSF4):c.224G>A(p.Arg75Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000397 in 1,612,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R75W) has been classified as Uncertain significance.
Frequency
Consequence
NM_032023.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RASSF4 | NM_032023.4 | c.224G>A | p.Arg75Gln | missense_variant | 4/11 | ENST00000340258.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASSF4 | ENST00000340258.10 | c.224G>A | p.Arg75Gln | missense_variant | 4/11 | 1 | NM_032023.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249614Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135072
GnomAD4 exome AF: 0.0000390 AC: 57AN: 1460686Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 726656
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 08, 2023 | The c.224G>A (p.R75Q) alteration is located in exon 4 (coding exon 3) of the RASSF4 gene. This alteration results from a G to A substitution at nucleotide position 224, causing the arginine (R) at amino acid position 75 to be replaced by a glutamine (Q). 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