1-100274924-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003729.4(RTCA):c.574A>G(p.Ile192Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,612,392 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_003729.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RTCA | ENST00000370128.9 | c.574A>G | p.Ile192Val | missense_variant | Exon 6 of 11 | 1 | NM_003729.4 | ENSP00000359146.4 | ||
RTCA | ENST00000260563.4 | c.613A>G | p.Ile205Val | missense_variant | Exon 7 of 12 | 1 | ENSP00000260563.4 | |||
RTCA | ENST00000498617.5 | n.*81A>G | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251204Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135780
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1460160Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 726362
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.613A>G (p.I205V) alteration is located in exon 7 (coding exon 7) of the RTCA gene. This alteration results from a A to G substitution at nucleotide position 613, causing the isoleucine (I) at amino acid position 205 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