rs17217280
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_014314.4(RIGI):āc.1740T>Cā(p.Asp580Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,900 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014314.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RIGI | NM_014314.4 | c.1740T>C | p.Asp580Asp | synonymous_variant | 12/18 | ENST00000379883.3 | NP_055129.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RIGI | ENST00000379883.3 | c.1740T>C | p.Asp580Asp | synonymous_variant | 12/18 | 1 | NM_014314.4 | ENSP00000369213.2 | ||
ENSG00000288684 | ENST00000681750.1 | c.1590T>C | p.Asp530Asp | synonymous_variant | 14/20 | ENSP00000506413.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457900Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 724858
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at