1-32944087-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001300826.2(RNF19B):c.1334G>A(p.Cys445Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,613,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF19B | ENST00000235150.5 | c.1334G>A | p.Cys445Tyr | missense_variant | Exon 6 of 9 | 1 | NM_001300826.2 | ENSP00000235150.4 | ||
RNF19B | ENST00000373456.11 | c.1337G>A | p.Cys446Tyr | missense_variant | Exon 6 of 9 | 1 | ENSP00000362555.7 | |||
RNF19B | ENST00000356990.9 | c.1334G>A | p.Cys445Tyr | missense_variant | Exon 6 of 9 | 1 | ENSP00000349482.5 | |||
ENSG00000287691 | ENST00000661031.1 | n.364-7340C>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251216Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135822
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461730Hom.: 0 Cov.: 31 AF XY: 0.0000440 AC XY: 32AN XY: 727166
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1337G>A (p.C446Y) alteration is located in exon 6 (coding exon 6) of the RNF19B gene. This alteration results from a G to A substitution at nucleotide position 1337, causing the cysteine (C) at amino acid position 446 to be replaced by a tyrosine (Y). 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