14-20590372-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001024822.4(RNASE12):c.352G>T(p.Ala118Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,850 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001024822.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNASE12 | NM_001024822.4 | c.352G>T | p.Ala118Ser | missense_variant | Exon 2 of 2 | ENST00000696784.1 | NP_001019993.1 | |
RNASE11-AS1 | NR_122043.1 | n.96-65C>A | intron_variant | Intron 1 of 4 | ||||
RNASE11 | NM_145250.5 | c.-298G>T | upstream_gene_variant | NP_660293.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNASE12 | ENST00000696784.1 | c.352G>T | p.Ala118Ser | missense_variant | Exon 2 of 2 | NM_001024822.4 | ENSP00000512867.1 | |||
ENSG00000259060 | ENST00000555283.1 | c.131+221G>T | intron_variant | Intron 2 of 2 | 4 | ENSP00000477006.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461850Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727232
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.352G>T (p.A118S) alteration is located in exon 1 (coding exon 1) of the RNASE12 gene. This alteration results from a G to T substitution at nucleotide position 352, causing the alanine (A) at amino acid position 118 to be replaced by a serine (S). 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