1-32937014-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001300826.2(RNF19B):c.1988G>A(p.Arg663His) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,614,134 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001300826.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF19B | ENST00000235150.5 | c.1988G>A | p.Arg663His | missense_variant | Exon 9 of 9 | 1 | NM_001300826.2 | ENSP00000235150.4 | ||
RNF19B | ENST00000373456.11 | c.1991G>A | p.Arg664His | missense_variant | Exon 9 of 9 | 1 | ENSP00000362555.7 | |||
RNF19B | ENST00000356990 | c.*274G>A | 3_prime_UTR_variant | Exon 9 of 9 | 1 | ENSP00000349482.5 | ||||
ENSG00000287691 | ENST00000661031.1 | n.363+2660C>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152126Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251472Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135908
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461890Hom.: 0 Cov.: 33 AF XY: 0.0000179 AC XY: 13AN XY: 727244
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152244Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1991G>A (p.R664H) alteration is located in exon 9 (coding exon 9) of the RNF19B gene. This alteration results from a G to A substitution at nucleotide position 1991, causing the arginine (R) at amino acid position 664 to be replaced by a histidine (H). 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