1-32937117-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001300826.2(RNF19B):c.1885G>A(p.Gly629Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF19B | ENST00000235150.5 | c.1885G>A | p.Gly629Ser | missense_variant | Exon 9 of 9 | 1 | NM_001300826.2 | ENSP00000235150.4 | ||
RNF19B | ENST00000373456.11 | c.1888G>A | p.Gly630Ser | missense_variant | Exon 9 of 9 | 1 | ENSP00000362555.7 | |||
RNF19B | ENST00000356990 | c.*171G>A | 3_prime_UTR_variant | Exon 9 of 9 | 1 | ENSP00000349482.5 | ||||
ENSG00000287691 | ENST00000661031.1 | n.363+2763C>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461888Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1888G>A (p.G630S) 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 1888, causing the glycine (G) at amino acid position 630 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
Publications
No publications associated with this variant yet.