chr11-74749224-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001098638.2(RNF169):c.344G>A(p.Arg115His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000927 in 1,078,802 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R115C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001098638.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF169 | NM_001098638.2 | c.344G>A | p.Arg115His | missense_variant | 1/6 | ENST00000299563.5 | |
RNF169 | XM_011544889.4 | c.344G>A | p.Arg115His | missense_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF169 | ENST00000299563.5 | c.344G>A | p.Arg115His | missense_variant | 1/6 | 1 | NM_001098638.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 147890Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000859 AC: 8AN: 930912Hom.: 0 Cov.: 30 AF XY: 0.00000686 AC XY: 3AN XY: 437320
GnomAD4 genome AF: 0.0000135 AC: 2AN: 147890Hom.: 0 Cov.: 32 AF XY: 0.0000139 AC XY: 1AN XY: 72020
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at