rs12147890
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002935.3(RNASE3):c.388G>A(p.Gly130Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,612,458 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002935.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNASE3 | NM_002935.3 | c.388G>A | p.Gly130Arg | missense_variant | 2/2 | ENST00000304639.4 | NP_002926.2 | |
LOC100507513 | XR_110261.4 | n.723-16331C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNASE3 | ENST00000304639.4 | c.388G>A | p.Gly130Arg | missense_variant | 2/2 | 1 | NM_002935.3 | ENSP00000302324.3 |
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150898Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251274Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135838
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461560Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 6AN XY: 727130
GnomAD4 genome AF: 0.00000663 AC: 1AN: 150898Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73682
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at