5-64214072-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001113561.2(RNF180):āc.746A>Gā(p.His249Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000607 in 1,614,066 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 (ā ).
Frequency
Consequence
NM_001113561.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF180 | NM_001113561.2 | c.746A>G | p.His249Arg | missense_variant | 4/8 | ENST00000389100.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF180 | ENST00000389100.9 | c.746A>G | p.His249Arg | missense_variant | 4/8 | 1 | NM_001113561.2 | P1 | |
RNF180 | ENST00000296615.10 | c.746A>G | p.His249Arg | missense_variant | 4/5 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251086Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135764
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1461738Hom.: 0 Cov.: 32 AF XY: 0.0000495 AC XY: 36AN XY: 727192
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74486
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at